{"id":2067,"date":"2021-11-19T15:06:52","date_gmt":"2021-11-19T15:06:52","guid":{"rendered":"https:\/\/cureclcn4.org\/genetica\/"},"modified":"2025-12-16T12:01:25","modified_gmt":"2025-12-16T12:01:25","slug":"genetica","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/es\/genetica\/","title":{"rendered":"Gen\u00e9tica"},"content":{"rendered":"<p>[et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbHeader\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#f7f9f9&#8243; parallax=\u00bbon\u00bb collapsed=\u00bboff\u00bb][et_pb_row column_structure=\u00bb1_2,1_2&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb0px|||||\u00bb][et_pb_column type=\u00bb1_2&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb80px||40px|\u00bb custom_padding_tablet=\u00bb0px||\u00bb custom_padding_phone=\u00bb\u00bb custom_padding_last_edited=\u00bbon|tablet\u00bb padding_tablet=\u00bb0px||\u00bb padding_last_edited=\u00bbon|tablet\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bb||||||||\u00bb text_line_height=\u00bb2em\u00bb header_font=\u00bbFaustina|600|||||||\u00bb header_text_color=\u00bb#0e7162&#8243; header_font_size=\u00bb60px\u00bb header_line_height=\u00bb1.3em\u00bb custom_margin=\u00bb-19px|||||\u00bb header_font_size_tablet=\u00bb50px\u00bb header_font_size_phone=\u00bb40px\u00bb header_font_size_last_edited=\u00bbon|phone\u00bb]<\/p>\n<h1>Gen\u00e9tica del CLCN4<\/h1>\n<p>[\/et_pb_text][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bb||||||||\u00bb text_font_size=\u00bb18px\u00bb text_line_height=\u00bb2em\u00bb header_font=\u00bbFaustina||||||||\u00bb header_text_color=\u00bb#0e7162&#8243; header_font_size=\u00bb60px\u00bb header_line_height=\u00bb1.3em\u00bb custom_margin=\u00bb||17px|||\u00bb]<\/p>\n<p>La gen\u00e9tica del CLCN4, es decir, c\u00f3mo se produce la enfermedad y c\u00f3mo puede transmitirse en las familias, es complicada.<\/p>\n<p>[\/et_pb_text][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bb||||||||\u00bb text_line_height=\u00bb2em\u00bb header_font=\u00bbFaustina||||||||\u00bb header_text_color=\u00bb#0e7162&#8243; header_font_size=\u00bb60px\u00bb header_line_height=\u00bb1.3em\u00bb custom_margin=\u00bb||17px|||\u00bb]<\/p>\n<p>Recomendamos a todas las familias que busquen el asesoramiento de un profesional de la gen\u00e9tica cl\u00ednica, pidiendo a su m\u00e9dico de familia (GP) o pediatra que les derive a un servicio de gen\u00e9tica. Para m\u00e1s informaci\u00f3n sobre c\u00f3mo acceder a los servicios de gen\u00e9tica, consulta <a href=\"https:\/\/www.rarechromo.org\/media\/information\/Other%20Topics\/A%20Clinical%20Genetics%20Appointment%20FTNW.pdf\" target=\"_blank\" rel=\"noopener\">aqu\u00ed<\/a> (Reino Unido) o <a href=\"https:\/\/www.hgsa.org.au\/asgc\/frequently-asked-questions\" target=\"_blank\" rel=\"noopener\">aqu\u00ed<\/a> (Australia\/Nueva Zelanda) o aqu\u00ed (EEUU).<\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=\u00bb1_2&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_image src=\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-19.png\u00bb alt=\u00bbGen\u00e9tica del CLCN4&#8243; title_text=\u00bbcharity-19&#8243; show_bottom_space=\u00bboff\u00bb align_tablet=\u00bbcenter\u00bb align_phone=\u00bb\u00bb align_last_edited=\u00bbon|desktop\u00bb _builder_version=\u00bb4.5.8&#8243; custom_margin=\u00bb-47px|||||\u00bb animation_style=\u00bbslide\u00bb animation_direction=\u00bbright\u00bb animation_intensity_slide=\u00bb2%\u00bb][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; 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background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb40px|80px|27px|80px|false|true\u00bb custom_padding_tablet=\u00bb\u00bb custom_padding_phone=\u00bb|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bbFaustina||||||||\u00bb text_font_size=\u00bb24px\u00bb text_line_height=\u00bb2em\u00bb link_font=\u00bb|700|||||||\u00bb link_text_color=\u00bb#26c699&#8243; header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_text_color=\u00bb#0e7162&#8243; header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb text_orientation=\u00bbcenter\u00bb max_width=\u00bb850px\u00bb module_alignment=\u00bbcenter\u00bb text_font_size_tablet=\u00bb\u00bb text_font_size_phone=\u00bb17px\u00bb text_font_size_last_edited=\u00bbon|phone\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>\u00bfSe ven afectados de forma diferente los hombres y las mujeres?<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb title=\u00bbVarones\u00bb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Los hombres s\u00f3lo tienen un cromosoma X: heredan un cromosoma X de su madre y un cromosoma Y de su padre. Esto significa que los varones s\u00f3lo tienen <strong>una copia del gen CLCN4<\/strong>: no tienen una copia \u00abde reserva\u00bb si tienen un fallo en el gen CLCN4. Los varones con un cambio en el gen CLCN4 (ya sea heredado de su madre o debido a un cambio de novo) tendr\u00e1n s\u00edntomas de CLCN4 &#8211; pero estos s\u00edntomas pueden variar ampliamente en gravedad y frecuencia.<\/p>\n<p>[\/et_pb_blurb][et_pb_blurb title=\u00bbPara las mujeres es m\u00e1s complicado.\u00bb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Las mujeres tienen <strong>dos cromosomas X<\/strong>: heredan un cromosoma X de su madre y otro cromosoma X de su padre. Esto significa que tienen potencialmente una copia funcional \u00abde reserva\u00bb del gen CLCN4. Sin embargo, en general las mujeres s\u00f3lo tienen una copia funcional de un cromosoma X en cada c\u00e9lula, debido a un proceso llamado \u00ab<a href=\"https:\/\/medlineplus.gov\/genetics\/chromosome\/x\/#:~:text=Early%20in%20embryonic%20development%20in,chromosome%20in%20each%20body%20cell\" target=\"_blank\" rel=\"noopener\">inactivaci\u00f3n del cromosoma X<\/a>\u00ab. Nuestro conocimiento actual es que la gravedad con la que una mujer se ver\u00e1 afectada por el CLCN4 depende de qu\u00e9 proporci\u00f3n de las c\u00e9lulas de su cerebro inactivan la copia del cromosoma X con el fallo del CLCN4, y qu\u00e9 proporci\u00f3n de las c\u00e9lulas de su cerebro inactivan la copia del cromosoma X con la copia funcional del gen. La gravedad de la afectaci\u00f3n de una mujer parece estar influida tambi\u00e9n por el hecho de que el cambio gen\u00e9tico se haya producido por primera vez al ser concebida (un cambio de novo: v\u00e9ase m\u00e1s adelante) o por el hecho de que el cambio gen\u00e9tico se haya heredado. Las mujeres que heredan un cromosoma X con un cambio en el gen CLCN4 suelen denominarse \u00abportadoras\u00bb. Las mujeres portadoras pueden no tener ning\u00fan s\u00edntoma, o pueden tener algunos s\u00edntomas de la afecci\u00f3n relacionada con el CLCN4, normalmente (pero no siempre) en el extremo leve del espectro. Algunas mujeres portadoras pueden, por ejemplo, tener problemas leves de aprendizaje o del habla o una mayor probabilidad de padecer trastornos mentales (ansiedad y\/o depresi\u00f3n). Por otro lado, las mujeres con una alteraci\u00f3n<em> de novo<\/em> del gen CLCN4 suelen tener una gama de s\u00edntomas similar a la de los hombres. <strong>As\u00ed que, en resumen:<\/strong> Los varones con una alteraci\u00f3n del CLCN4 siempre tienen s\u00edntomas, las mujeres con una alteraci\u00f3n del CLCN4 pueden no estar afectadas en absoluto, tener s\u00edntomas leves o s\u00edntomas m\u00e1s graves. Es m\u00e1s probable que se vean afectadas si el cambio gen\u00e9tico se produjo de novo (cuando fueron concebidas) en lugar de ser heredado de uno de los padres. Todav\u00eda tenemos mucho que aprender para comprender mejor esta complejidad.<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbVideo\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#3a897e\u00bb custom_padding=\u00bb0|1px|0|0px|false|false\u00bb collapsed=\u00bboff\u00bb][et_pb_row _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb]<\/p>\n<p>[et_pb_divider show_divider=\u00bboff\u00bb _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][\/et_pb_divider]<\/p>\n<p>[\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbGet Involved\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#f7f9f9&#8243; 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background_video_pause_outside_viewport__hover_enabled=\u00bbon\u00bb inner_shadow__hover=\u00bboff\u00bb inner_shadow__hover_enabled=\u00bboff\u00bb make_fullwidth__hover=\u00bboff\u00bb make_fullwidth__hover_enabled=\u00bboff\u00bb use_custom_width__hover=\u00bboff\u00bb use_custom_width__hover_enabled=\u00bboff\u00bb width_unit__hover=\u00bbon\u00bb width_unit__hover_enabled=\u00bbon\u00bb make_equal__hover=\u00bboff\u00bb make_equal__hover_enabled=\u00bboff\u00bb use_custom_gutter__hover=\u00bboff\u00bb use_custom_gutter__hover_enabled=\u00bboff\u00bb border_radii__hover=\u00bbon||||\u00bb border_radii__hover_enabled=\u00bbon||||\u00bb box_shadow_style__hover=\u00bbnone\u00bb box_shadow_style__hover_enabled=\u00bbnone\u00bb box_shadow_color__hover=\u00bbrgba(0,0,0,0.3)\u00bb box_shadow_color__hover_enabled=\u00bbrgba(0,0,0,0.3)\u00bb max_width__hover=\u00bb100%\u00bb max_width__hover_enabled=\u00bb100%\u00bb filter_hue_rotate__hover=\u00bb0deg\u00bb filter_hue_rotate__hover_enabled=\u00bb0deg\u00bb filter_saturate__hover=\u00bb100%\u00bb filter_saturate__hover_enabled=\u00bb100%\u00bb filter_brightness__hover=\u00bb100%\u00bb filter_brightness__hover_enabled=\u00bb100%\u00bb filter_contrast__hover=\u00bb100%\u00bb filter_contrast__hover_enabled=\u00bb100%\u00bb filter_invert__hover=\u00bb0%\u00bb filter_invert__hover_enabled=\u00bb0%\u00bb filter_sepia__hover=\u00bb0%\u00bb filter_sepia__hover_enabled=\u00bb0%\u00bb filter_opacity__hover=\u00bb100%\u00bb filter_opacity__hover_enabled=\u00bb100%\u00bb filter_blur__hover=\u00bb0px\u00bb filter_blur__hover_enabled=\u00bb0px\u00bb mix_blend_mode__hover=\u00bbnormal\u00bb mix_blend_mode__hover_enabled=\u00bbnormal\u00bb animation_style__hover=\u00bbnone\u00bb animation_style__hover_enabled=\u00bbnone\u00bb animation_repeat__hover=\u00bbonce\u00bb animation_repeat__hover_enabled=\u00bbonce\u00bb animation_direction__hover=\u00bbcenter\u00bb animation_direction__hover_enabled=\u00bbcenter\u00bb animation_duration__hover=\u00bb1000ms\u00bb animation_duration__hover_enabled=\u00bb1000ms\u00bb animation_delay__hover=\u00bb0ms\u00bb animation_delay__hover_enabled=\u00bb0ms\u00bb animation_intensity_slide__hover=\u00bb50%\u00bb animation_intensity_slide__hover_enabled=\u00bb50%\u00bb animation_intensity_zoom__hover=\u00bb50%\u00bb animation_intensity_zoom__hover_enabled=\u00bb50%\u00bb animation_intensity_flip__hover=\u00bb50%\u00bb animation_intensity_flip__hover_enabled=\u00bb50%\u00bb animation_intensity_fold__hover=\u00bb50%\u00bb animation_intensity_fold__hover_enabled=\u00bb50%\u00bb animation_intensity_roll__hover=\u00bb50%\u00bb animation_intensity_roll__hover_enabled=\u00bb50%\u00bb animation_starting_opacity__hover=\u00bb0%\u00bb animation_starting_opacity__hover_enabled=\u00bb0%\u00bb animation_speed_curve__hover=\u00bbease-in-out\u00bb animation_speed_curve__hover_enabled=\u00bbease-in-out\u00bb hover_transition_duration__hover=\u00bb300ms\u00bb hover_transition_duration__hover_enabled=\u00bb300ms\u00bb hover_transition_delay__hover=\u00bb0ms\u00bb hover_transition_delay__hover_enabled=\u00bb0ms\u00bb hover_transition_speed_curve__hover=\u00bbease\u00bb hover_transition_speed_curve__hover_enabled=\u00bbease\u00bb inner_max_width__hover=\u00bb1080px\u00bb inner_max_width__hover_enabled=\u00bb1080px\u00bb][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb3.25&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb40px|80px|27px|80px|false|true\u00bb custom_padding_tablet=\u00bb\u00bb custom_padding_phone=\u00bb|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bbFaustina||||||||\u00bb text_font_size=\u00bb24px\u00bb text_line_height=\u00bb2em\u00bb link_font=\u00bb|700|||||||\u00bb link_text_color=\u00bb#26c699&#8243; header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_text_color=\u00bb#0e7162&#8243; header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb text_orientation=\u00bbcenter\u00bb max_width=\u00bb850px\u00bb module_alignment=\u00bbcenter\u00bb text_font_size_tablet=\u00bb\u00bb text_font_size_phone=\u00bb17px\u00bb text_font_size_last_edited=\u00bbon|phone\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>\u00bfC\u00f3mo pueden los ni\u00f1os contraer la enfermedad relacionada con el CLCN4?<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Los ni\u00f1os pueden tener una enfermedad del CLCN4 de novo o heredada. Para saber con seguridad cu\u00e1l es la situaci\u00f3n en su familia, es necesario realizar pruebas gen\u00e9ticas a los padres. Tras las pruebas de los padres, esta informaci\u00f3n debe incluirse en el informe de la prueba gen\u00e9tica de su hijo. <strong>Cambios gen\u00e9ticos <em>de novo<\/em> del CLCN4.<\/strong> Un individuo puede nacer con un nuevo cambio gen\u00e9tico (<em>de novo<\/em>) en el gen CLCN4, que no se hereda de su madre o de su padre. Esto suele deberse a que el fallo del CLCN4 se produjo por primera vez al concebir al beb\u00e9 (cuando el \u00f3vulo y el esperma se unieron para formar un beb\u00e9). La condici\u00f3n relacionada con el CLCN4 no fue causada por nada que los padres hicieran o dejaran de hacer, como tomar ciertos medicamentos o exposiciones ambientales, simplemente ocurre por casualidad. No fue \u00abculpa\u00bb de nadie. Existe una probabilidad muy baja (estimada en 1 de cada 100) de que los hermanos de un ni\u00f1o con un fallo CLCN4 de novo tambi\u00e9n est\u00e9n afectados por el CLCN4. Sin embargo, la probabilidad no es cero, ya que muy ocasionalmente el fallo se produjo en un grupo de \u00f3vulos en la madre o de esperma en el padre (<a href=\"https:\/\/www.guysandstthomas.nhs.uk\/resources\/patient-information\/genetics\/germline-mosaicism-web.pdf\" target=\"_blank\" rel=\"noopener\">mosaicismo de l\u00ednea germinal<\/a>). Los varones con un cambio gen\u00e9tico de novo en el CLCN4 experimentar\u00e1n los s\u00edntomas de la afecci\u00f3n relacionada con el CLCN4. Las mujeres con un cambio gen\u00e9tico CLCN4 de novo parecen mostrar una gama de s\u00edntomas similar a la de los varones. \u00a0<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbVideo\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#3a897e\u00bb custom_padding=\u00bb0|1px|0|0px|false|false\u00bb collapsed=\u00bboff\u00bb][et_pb_row _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb]<\/p>\n<p>[et_pb_divider show_divider=\u00bboff\u00bb _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][\/et_pb_divider]<\/p>\n<p>[\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbGet Involved\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#f7f9f9&#8243; background_image=\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png\u00bb parallax=\u00bbon\u00bb custom_padding=\u00bb0|1px|102px|0px|false|false\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb custom_width_px__hover=\u00bb1080px\u00bb custom_width_px__hover_enabled=\u00bb1080px\u00bb custom_width_percent__hover=\u00bb80%\u00bb custom_width_percent__hover_enabled=\u00bb80%\u00bb collapsed=\u00bboff\u00bb gutter_width__hover=\u00bb3&#8243; gutter_width__hover_enabled=\u00bb3&#8243; parallax_1__hover=\u00bboff\u00bb parallax_1__hover_enabled=\u00bboff\u00bb parallax_2__hover=\u00bboff\u00bb parallax_2__hover_enabled=\u00bboff\u00bb parallax_3__hover=\u00bboff\u00bb parallax_3__hover_enabled=\u00bboff\u00bb parallax_method_1__hover=\u00bbon\u00bb parallax_method_1__hover_enabled=\u00bbon\u00bb parallax_method_2__hover=\u00bbon\u00bb parallax_method_2__hover_enabled=\u00bbon\u00bb parallax_method_3__hover=\u00bbon\u00bb parallax_method_3__hover_enabled=\u00bbon\u00bb use_background_color_gradient__hover=\u00bboff\u00bb use_background_color_gradient__hover_enabled=\u00bboff\u00bb background_color_gradient_start__hover=\u00bb#2b87da\u00bb background_color_gradient_start__hover_enabled=\u00bb#2b87da\u00bb background_color_gradient_end__hover=\u00bb#29c4a9&#8243; background_color_gradient_end__hover_enabled=\u00bb#29c4a9&#8243; background_color_gradient_type__hover=\u00bblinear\u00bb background_color_gradient_type__hover_enabled=\u00bblinear\u00bb background_color_gradient_direction__hover=\u00bb180deg\u00bb background_color_gradient_direction__hover_enabled=\u00bb180deg\u00bb background_color_gradient_direction_radial__hover=\u00bbcenter\u00bb background_color_gradient_direction_radial__hover_enabled=\u00bbcenter\u00bb background_color_gradient_start_position__hover=\u00bb0%\u00bb background_color_gradient_start_position__hover_enabled=\u00bb0%\u00bb background_color_gradient_end_position__hover=\u00bb100%\u00bb background_color_gradient_end_position__hover_enabled=\u00bb100%\u00bb background_color_gradient_overlays_image__hover=\u00bboff\u00bb background_color_gradient_overlays_image__hover_enabled=\u00bboff\u00bb parallax__hover=\u00bboff\u00bb parallax__hover_enabled=\u00bboff\u00bb parallax_method__hover=\u00bbon\u00bb parallax_method__hover_enabled=\u00bbon\u00bb background_size__hover=\u00bbcover\u00bb background_size__hover_enabled=\u00bbcover\u00bb background_position__hover=\u00bbcenter\u00bb background_position__hover_enabled=\u00bbcenter\u00bb background_repeat__hover=\u00bbno-repeat\u00bb background_repeat__hover_enabled=\u00bbno-repeat\u00bb background_blend__hover=\u00bbnormal\u00bb background_blend__hover_enabled=\u00bbnormal\u00bb allow_player_pause__hover=\u00bboff\u00bb allow_player_pause__hover_enabled=\u00bboff\u00bb background_video_pause_outside_viewport__hover=\u00bbon\u00bb background_video_pause_outside_viewport__hover_enabled=\u00bbon\u00bb inner_shadow__hover=\u00bboff\u00bb inner_shadow__hover_enabled=\u00bboff\u00bb make_fullwidth__hover=\u00bboff\u00bb make_fullwidth__hover_enabled=\u00bboff\u00bb use_custom_width__hover=\u00bboff\u00bb use_custom_width__hover_enabled=\u00bboff\u00bb width_unit__hover=\u00bbon\u00bb width_unit__hover_enabled=\u00bbon\u00bb make_equal__hover=\u00bboff\u00bb make_equal__hover_enabled=\u00bboff\u00bb use_custom_gutter__hover=\u00bboff\u00bb use_custom_gutter__hover_enabled=\u00bboff\u00bb border_radii__hover=\u00bbon||||\u00bb border_radii__hover_enabled=\u00bbon||||\u00bb box_shadow_style__hover=\u00bbnone\u00bb box_shadow_style__hover_enabled=\u00bbnone\u00bb box_shadow_color__hover=\u00bbrgba(0,0,0,0.3)\u00bb box_shadow_color__hover_enabled=\u00bbrgba(0,0,0,0.3)\u00bb max_width__hover=\u00bb100%\u00bb max_width__hover_enabled=\u00bb100%\u00bb filter_hue_rotate__hover=\u00bb0deg\u00bb filter_hue_rotate__hover_enabled=\u00bb0deg\u00bb filter_saturate__hover=\u00bb100%\u00bb filter_saturate__hover_enabled=\u00bb100%\u00bb filter_brightness__hover=\u00bb100%\u00bb filter_brightness__hover_enabled=\u00bb100%\u00bb filter_contrast__hover=\u00bb100%\u00bb filter_contrast__hover_enabled=\u00bb100%\u00bb filter_invert__hover=\u00bb0%\u00bb filter_invert__hover_enabled=\u00bb0%\u00bb filter_sepia__hover=\u00bb0%\u00bb filter_sepia__hover_enabled=\u00bb0%\u00bb filter_opacity__hover=\u00bb100%\u00bb filter_opacity__hover_enabled=\u00bb100%\u00bb filter_blur__hover=\u00bb0px\u00bb filter_blur__hover_enabled=\u00bb0px\u00bb mix_blend_mode__hover=\u00bbnormal\u00bb mix_blend_mode__hover_enabled=\u00bbnormal\u00bb animation_style__hover=\u00bbnone\u00bb animation_style__hover_enabled=\u00bbnone\u00bb animation_repeat__hover=\u00bbonce\u00bb animation_repeat__hover_enabled=\u00bbonce\u00bb animation_direction__hover=\u00bbcenter\u00bb animation_direction__hover_enabled=\u00bbcenter\u00bb animation_duration__hover=\u00bb1000ms\u00bb animation_duration__hover_enabled=\u00bb1000ms\u00bb animation_delay__hover=\u00bb0ms\u00bb animation_delay__hover_enabled=\u00bb0ms\u00bb animation_intensity_slide__hover=\u00bb50%\u00bb animation_intensity_slide__hover_enabled=\u00bb50%\u00bb animation_intensity_zoom__hover=\u00bb50%\u00bb animation_intensity_zoom__hover_enabled=\u00bb50%\u00bb animation_intensity_flip__hover=\u00bb50%\u00bb animation_intensity_flip__hover_enabled=\u00bb50%\u00bb animation_intensity_fold__hover=\u00bb50%\u00bb animation_intensity_fold__hover_enabled=\u00bb50%\u00bb animation_intensity_roll__hover=\u00bb50%\u00bb animation_intensity_roll__hover_enabled=\u00bb50%\u00bb animation_starting_opacity__hover=\u00bb0%\u00bb animation_starting_opacity__hover_enabled=\u00bb0%\u00bb animation_speed_curve__hover=\u00bbease-in-out\u00bb animation_speed_curve__hover_enabled=\u00bbease-in-out\u00bb hover_transition_duration__hover=\u00bb300ms\u00bb hover_transition_duration__hover_enabled=\u00bb300ms\u00bb hover_transition_delay__hover=\u00bb0ms\u00bb hover_transition_delay__hover_enabled=\u00bb0ms\u00bb hover_transition_speed_curve__hover=\u00bbease\u00bb hover_transition_speed_curve__hover_enabled=\u00bbease\u00bb inner_max_width__hover=\u00bb1080px\u00bb inner_max_width__hover_enabled=\u00bb1080px\u00bb][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb3.25&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb40px|80px|27px|80px|false|true\u00bb custom_padding_tablet=\u00bb\u00bb custom_padding_phone=\u00bb|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bbFaustina||||||||\u00bb text_font_size=\u00bb24px\u00bb text_line_height=\u00bb2em\u00bb link_font=\u00bb|700|||||||\u00bb link_text_color=\u00bb#26c699&#8243; header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_text_color=\u00bb#0e7162&#8243; header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb text_orientation=\u00bbcenter\u00bb max_width=\u00bb850px\u00bb module_alignment=\u00bbcenter\u00bb text_font_size_tablet=\u00bb\u00bb text_font_size_phone=\u00bb17px\u00bb text_font_size_last_edited=\u00bbon|phone\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>Cambios gen\u00e9ticos heredados de CLCN4<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Alternativamente, un individuo puede heredar una alteraci\u00f3n gen\u00e9tica del CLCN4 en un cromosoma X de uno de sus padres. Esto significa que uno de los padres est\u00e1 afectado por el CLCN4 o es portador del mismo. Aproximadamente \u00be de las veces, los varones heredan el cambio gen\u00e9tico del CLCN4 de su madre.<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbVideo\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#3a897e\u00bb custom_padding=\u00bb0|1px|0|0px|false|false\u00bb collapsed=\u00bboff\u00bb][et_pb_row _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb]<\/p>\n<p>[et_pb_divider show_divider=\u00bboff\u00bb _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][\/et_pb_divider]<\/p>\n<p>[\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbGet Involved\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#f7f9f9&#8243; background_image=\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png\u00bb parallax=\u00bbon\u00bb custom_padding=\u00bb0|1px|102px|0px|false|false\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb custom_width_px__hover=\u00bb1080px\u00bb custom_width_px__hover_enabled=\u00bb1080px\u00bb custom_width_percent__hover=\u00bb80%\u00bb custom_width_percent__hover_enabled=\u00bb80%\u00bb collapsed=\u00bboff\u00bb gutter_width__hover=\u00bb3&#8243; gutter_width__hover_enabled=\u00bb3&#8243; parallax_1__hover=\u00bboff\u00bb parallax_1__hover_enabled=\u00bboff\u00bb parallax_2__hover=\u00bboff\u00bb parallax_2__hover_enabled=\u00bboff\u00bb parallax_3__hover=\u00bboff\u00bb parallax_3__hover_enabled=\u00bboff\u00bb parallax_method_1__hover=\u00bbon\u00bb parallax_method_1__hover_enabled=\u00bbon\u00bb parallax_method_2__hover=\u00bbon\u00bb parallax_method_2__hover_enabled=\u00bbon\u00bb parallax_method_3__hover=\u00bbon\u00bb parallax_method_3__hover_enabled=\u00bbon\u00bb use_background_color_gradient__hover=\u00bboff\u00bb use_background_color_gradient__hover_enabled=\u00bboff\u00bb background_color_gradient_start__hover=\u00bb#2b87da\u00bb background_color_gradient_start__hover_enabled=\u00bb#2b87da\u00bb background_color_gradient_end__hover=\u00bb#29c4a9&#8243; background_color_gradient_end__hover_enabled=\u00bb#29c4a9&#8243; background_color_gradient_type__hover=\u00bblinear\u00bb background_color_gradient_type__hover_enabled=\u00bblinear\u00bb background_color_gradient_direction__hover=\u00bb180deg\u00bb background_color_gradient_direction__hover_enabled=\u00bb180deg\u00bb background_color_gradient_direction_radial__hover=\u00bbcenter\u00bb background_color_gradient_direction_radial__hover_enabled=\u00bbcenter\u00bb background_color_gradient_start_position__hover=\u00bb0%\u00bb background_color_gradient_start_position__hover_enabled=\u00bb0%\u00bb 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filter_hue_rotate__hover_enabled=\u00bb0deg\u00bb filter_saturate__hover=\u00bb100%\u00bb filter_saturate__hover_enabled=\u00bb100%\u00bb filter_brightness__hover=\u00bb100%\u00bb filter_brightness__hover_enabled=\u00bb100%\u00bb filter_contrast__hover=\u00bb100%\u00bb filter_contrast__hover_enabled=\u00bb100%\u00bb filter_invert__hover=\u00bb0%\u00bb filter_invert__hover_enabled=\u00bb0%\u00bb filter_sepia__hover=\u00bb0%\u00bb filter_sepia__hover_enabled=\u00bb0%\u00bb filter_opacity__hover=\u00bb100%\u00bb filter_opacity__hover_enabled=\u00bb100%\u00bb filter_blur__hover=\u00bb0px\u00bb filter_blur__hover_enabled=\u00bb0px\u00bb mix_blend_mode__hover=\u00bbnormal\u00bb mix_blend_mode__hover_enabled=\u00bbnormal\u00bb animation_style__hover=\u00bbnone\u00bb animation_style__hover_enabled=\u00bbnone\u00bb animation_repeat__hover=\u00bbonce\u00bb animation_repeat__hover_enabled=\u00bbonce\u00bb animation_direction__hover=\u00bbcenter\u00bb 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hover_transition_duration__hover=\u00bb300ms\u00bb hover_transition_duration__hover_enabled=\u00bb300ms\u00bb hover_transition_delay__hover=\u00bb0ms\u00bb hover_transition_delay__hover_enabled=\u00bb0ms\u00bb hover_transition_speed_curve__hover=\u00bbease\u00bb hover_transition_speed_curve__hover_enabled=\u00bbease\u00bb inner_max_width__hover=\u00bb1080px\u00bb inner_max_width__hover_enabled=\u00bb1080px\u00bb][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb3.25&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb40px|80px|27px|80px|false|true\u00bb custom_padding_tablet=\u00bb\u00bb custom_padding_phone=\u00bb|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bbFaustina||||||||\u00bb text_font_size=\u00bb24px\u00bb text_line_height=\u00bb2em\u00bb link_font=\u00bb|700|||||||\u00bb link_text_color=\u00bb#26c699&#8243; header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_text_color=\u00bb#0e7162&#8243; header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb text_orientation=\u00bbcenter\u00bb max_width=\u00bb850px\u00bb module_alignment=\u00bbcenter\u00bb text_font_size_tablet=\u00bb\u00bb text_font_size_phone=\u00bb17px\u00bb text_font_size_last_edited=\u00bbon|phone\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>\u00bfCu\u00e1les son las posibilidades de que una mujer portadora tenga un hijo con una afecci\u00f3n relacionada con el CLCN4?<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Las personas con CLCN4 o que son portadoras de CLCN4 tienen opciones a la hora de planificar los hijos y estas opciones pueden discutirse m\u00e1s a fondo con un genetista cl\u00ednico. Cuando una mujer portadora tiene hijos, por cada embarazo hay un 50% de posibilidades de transmitir el cromosoma X con el gen CLCN4 en funcionamiento y un 50% de posibilidades de transmitir el cromosoma X con el cambio del gen CLCN4 (v\u00e9ase el diagrama siguiente). Esto significa que, por cada embarazo, una mujer portadora del CLCN4 tendr\u00eda:<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=\u00bb1_2,1_2&#8243; custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb1_2&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb custom_padding=\u00bb||101px|||\u00bb]<\/p>\n<ul>\n<li>1 de cada 4 (25%) posibilidades de un ni\u00f1o afectado.<\/li>\n<li>1 de cada 4 (25%) posibilidades de que una mujer sea portadora (puede no estar afectada en absoluto o estarlo levemente).<\/li>\n<li>1 de cada 2 (50%) posibilidades de que un ni\u00f1o no est\u00e9 afectado por el CLCN4 y no pueda transmitir a sus hijos la enfermedad relacionada con el CLCN4.<\/li>\n<\/ul>\n<p>[\/et_pb_blurb][\/et_pb_column][et_pb_column type=\u00bb1_2&#8243; 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background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb40px|80px|27px|80px|false|true\u00bb custom_padding_tablet=\u00bb\u00bb custom_padding_phone=\u00bb|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bbFaustina||||||||\u00bb text_font_size=\u00bb24px\u00bb text_line_height=\u00bb2em\u00bb link_font=\u00bb|700|||||||\u00bb link_text_color=\u00bb#26c699&#8243; header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_text_color=\u00bb#0e7162&#8243; header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb text_orientation=\u00bbcenter\u00bb max_width=\u00bb850px\u00bb module_alignment=\u00bbcenter\u00bb text_font_size_tablet=\u00bb\u00bb text_font_size_phone=\u00bb17px\u00bb text_font_size_last_edited=\u00bbon|phone\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>\u00bfCu\u00e1les son las probabilidades de que un hombre portador tenga un hijo con una enfermedad relacionada con el CLCN4?<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Los varones transmiten su cromosoma X a todas sus hijas y el cromosoma Y a sus hijos. Un var\u00f3n con CLCN4, si tiene hijos:<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=\u00bb1_2,1_2&#8243; custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb1_2&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<ul>\n<li>Transmitir el cromosoma X con el cambio del gen CLCN4 a todas sus hijas. Esto significa que todas sus hijas ser\u00e1n portadoras y podr\u00edan tener hijos propios con una enfermedad relacionada con el CLCN4.<\/li>\n<li>Transmitir su cromosoma Y a todos sus hijos. Por tanto, ninguno de sus hijos tendr\u00eda una afecci\u00f3n relacionada con el CLCN4, y ninguno de sus hijos podr\u00eda transmitir la afecci\u00f3n a sus hijos.<\/li>\n<\/ul>\n<p>[\/et_pb_blurb][\/et_pb_column][et_pb_column type=\u00bb1_2&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_image src=\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2021\/03\/CLCN4_male_carrier_new.jpg\u00bb title_text=\u00bbCLCN4_male_carrier_new\u00bb align=\u00bbcenter\u00bb _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb width=\u00bb74%\u00bb][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Sabemos de al menos un var\u00f3n con CLCN4 que ha tenido hijas, y esas hijas tienen dificultades de aprendizaje leves.<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbVideo\u00bb _builder_version=\u00bb3.22&#8243; 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header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_text_color=\u00bb#0e7162&#8243; header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb text_orientation=\u00bbcenter\u00bb max_width=\u00bb850px\u00bb module_alignment=\u00bbcenter\u00bb text_font_size_tablet=\u00bb\u00bb text_font_size_phone=\u00bb17px\u00bb text_font_size_last_edited=\u00bbon|phone\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>\u00bfC\u00f3mo se comprueba una alteraci\u00f3n del gen CLCN4?<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00bbon|phone\u00bb _builder_version=\u00bb4.5.8&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb1200px\u00bb custom_padding=\u00bb29px|80px|28px|80px|false|false\u00bb custom_padding_tablet=\u00bb|80px||80px|false|true\u00bb custom_padding_phone=\u00bb40px|30px||30px||true\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb1200px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blurb content_max_width=\u00bb800px\u00bb _builder_version=\u00bb4.5.8&#8243; header_font=\u00bb|700|||||||\u00bb header_font_size=\u00bb16px\u00bb header_line_height=\u00bb2em\u00bb body_line_height=\u00bb2em\u00bb]<\/p>\n<p>Las pruebas gen\u00e9ticas pueden ser organizadas por un pediatra o un genetista cl\u00ednico. El ADN se extrae de una muestra de sangre o saliva y se analiza para detectar un cambio gen\u00e9tico en el gen CLCNC4. En la actualidad hay una serie de tipos de pruebas gen\u00e9ticas que pueden utilizarse, y tu pediatra o genetista puede aconsejarte. Ser\u00eda importante incluir una prueba que no s\u00f3lo busque \u00abcambios ortogr\u00e1ficos\u00bb (cambios de sentido, de ganancia de parada, de cambio de marco y de empalme) en el gen, sino tambi\u00e9n deleciones cromos\u00f3micas peque\u00f1as y grandes. Algunos ejemplos podr\u00edan ser un micoarray cromos\u00f3mico y un exoma, o la secuenciaci\u00f3n del genoma completo. Puedes encontrar m\u00e1s informaci\u00f3n sobre las pruebas gen\u00e9ticas <a href=\"https:\/\/www.genomicsinfo.org.au\/\" target=\"_blank\" rel=\"noopener\">aqu\u00ed<\/a>.<\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbVideo\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#3a897e\u00bb custom_padding=\u00bb0|1px|0|0px|false|false\u00bb collapsed=\u00bboff\u00bb][et_pb_row _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb]<\/p>\n<p>[et_pb_divider show_divider=\u00bboff\u00bb _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb][\/et_pb_divider]<\/p>\n<p>[\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; fullwidth=\u00bbon\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bb#f7f9f9&#8243; use_background_color_gradient__hover=\u00bboff\u00bb use_background_color_gradient__hover_enabled=\u00bboff\u00bb background_color_gradient_start__hover=\u00bb#2b87da\u00bb background_color_gradient_start__hover_enabled=\u00bb#2b87da\u00bb background_color_gradient_end__hover=\u00bb#29c4a9&#8243; background_color_gradient_end__hover_enabled=\u00bb#29c4a9&#8243; background_color_gradient_type__hover=\u00bblinear\u00bb background_color_gradient_type__hover_enabled=\u00bblinear\u00bb background_color_gradient_direction__hover=\u00bb180deg\u00bb background_color_gradient_direction__hover_enabled=\u00bb180deg\u00bb background_color_gradient_direction_radial__hover=\u00bbcenter\u00bb background_color_gradient_direction_radial__hover_enabled=\u00bbcenter\u00bb background_color_gradient_start_position__hover=\u00bb0%\u00bb background_color_gradient_start_position__hover_enabled=\u00bb0%\u00bb background_color_gradient_end_position__hover=\u00bb100%\u00bb background_color_gradient_end_position__hover_enabled=\u00bb100%\u00bb background_color_gradient_overlays_image__hover=\u00bboff\u00bb background_color_gradient_overlays_image__hover_enabled=\u00bboff\u00bb parallax__hover=\u00bboff\u00bb parallax__hover_enabled=\u00bboff\u00bb parallax_method__hover=\u00bbon\u00bb parallax_method__hover_enabled=\u00bbon\u00bb background_size__hover=\u00bbcover\u00bb background_size__hover_enabled=\u00bbcover\u00bb background_position__hover=\u00bbcenter\u00bb background_position__hover_enabled=\u00bbcenter\u00bb background_repeat__hover=\u00bbno-repeat\u00bb background_repeat__hover_enabled=\u00bbno-repeat\u00bb background_blend__hover=\u00bbnormal\u00bb background_blend__hover_enabled=\u00bbnormal\u00bb allow_player_pause__hover=\u00bboff\u00bb allow_player_pause__hover_enabled=\u00bboff\u00bb background_video_pause_outside_viewport__hover=\u00bbon\u00bb background_video_pause_outside_viewport__hover_enabled=\u00bbon\u00bb][et_pb_fullwidth_image src=\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-23.png\u00bb _builder_version=\u00bb3.17.6&#8243; animation_style=\u00bbslide\u00bb animation_direction=\u00bbbottom\u00bb animation_intensity_slide=\u00bb4%\u00bb][\/et_pb_fullwidth_image][\/et_pb_section][et_pb_section fb_built=\u00bb1&#8243; admin_label=\u00bbFooter\u00bb _builder_version=\u00bb3.22&#8243; background_color=\u00bbrgba(14,113,98,0.9)\u00bb use_background_color_gradient=\u00bbon\u00bb background_color_gradient_start=\u00bb#0e7162&#8243; background_color_gradient_end=\u00bbrgba(14,113,98,0.88)\u00bb background_color_gradient_overlays_image=\u00bbon\u00bb background_image=\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-25.jpg\u00bb collapsed=\u00bboff\u00bb][et_pb_row _builder_version=\u00bb3.25&#8243;][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_text _builder_version=\u00bb4.5.8&#8243; text_font=\u00bb||||||||\u00bb text_line_height=\u00bb2em\u00bb ul_font=\u00bb||||||||\u00bb ol_font=\u00bb||||||||\u00bb header_font=\u00bb||||||||\u00bb header_2_font=\u00bbFaustina|600|||||||\u00bb header_2_font_size=\u00bb42px\u00bb header_2_line_height=\u00bb1.4em\u00bb header_3_font=\u00bb||||||||\u00bb header_4_font=\u00bb||||||||\u00bb header_5_font=\u00bb||||||||\u00bb header_6_font=\u00bb||||||||\u00bb text_orientation=\u00bbcenter\u00bb background_layout=\u00bbdark\u00bb max_width=\u00bb600px\u00bb module_alignment=\u00bbcenter\u00bb header_2_font_size_tablet=\u00bb32px\u00bb header_2_font_size_phone=\u00bb22px\u00bb header_2_font_size_last_edited=\u00bbon|desktop\u00bb locked=\u00bboff\u00bb]<\/p>\n<h2>Ponte en contacto. Participa.<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\u00bb3.25&#8243; background_color=\u00bb#ffffff\u00bb max_width=\u00bb850px\u00bb custom_padding=\u00bb60px|60px|60px|60px|true|true\u00bb animation_style=\u00bbslide\u00bb animation_direction=\u00bbtop\u00bb animation_intensity_slide=\u00bb2%\u00bb box_shadow_style=\u00bbpreset3&#8243; box_shadow_vertical=\u00bb40px\u00bb box_shadow_blur=\u00bb100px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.22)\u00bb use_custom_width=\u00bbon\u00bb custom_width_px=\u00bb850px\u00bb][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_contact_form email=\u00bbinfo@cureclcn4.org\u00bb success_message=\u00bbGracias por ponerte en contacto con nosotros. 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_module_preset=\u00bbdefault\u00bb][\/et_pb_contact_field][\/et_pb_contact_form][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\u00bb3.25&#8243;][et_pb_column type=\u00bb4_4&#8243; _builder_version=\u00bb3.25&#8243; custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb]<\/p>\n<p>[et_pb_social_media_follow _builder_version=\u00bb4.9.4&#8243; text_orientation=\u00bbcenter\u00bb custom_margin=\u00bb|||||true\u00bb hover_enabled=\u00bb0&#8243; border_radii=\u00bbon|40px|40px|40px|40px\u00bb locked=\u00bboff\u00bb sticky_enabled=\u00bb0&#8243;][et_pb_social_media_follow_network social_network=\u00bbfacebook\u00bb url=\u00bbhttps:\/\/www.facebook.com\/CureCLCN4&#8243; _builder_version=\u00bb4.9.4&#8243; background_color=\u00bbrgba(255,255,255,0.2)\u00bb custom_margin=\u00bb|6px||6px||true\u00bb custom_padding=\u00bb8px|8px|8px|8px|true|true\u00bb hover_enabled=\u00bb0&#8243; follow_button=\u00bboff\u00bb url_new_window=\u00bbon\u00bb sticky_enabled=\u00bb0&#8243;]facebook[\/et_pb_social_media_follow_network][et_pb_social_media_follow_network social_network=\u00bblinkedin\u00bb url=\u00bbhttps:\/\/uk.linkedin.com\/company\/cure-clcn4?trk=public_profile_experience-item_result-card_image-click\u00bb _builder_version=\u00bb4.5.8&#8243; _module_preset=\u00bbdefault\u00bb background_color=\u00bbrgba(255,255,255,0.2)\u00bb custom_margin=\u00bb|6px||6px|false|false\u00bb custom_padding=\u00bb8px|8px|8px|8px|false|false\u00bb follow_button=\u00bboff\u00bb url_new_window=\u00bbon\u00bb]linkedin[\/et_pb_social_media_follow_network][\/et_pb_social_media_follow]<\/p>\n<p>[\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La gen\u00e9tica del CLCN4, es decir, c\u00f3mo se produce la enfermedad y c\u00f3mo puede transmitirse en las familias, es compleja y \u00fanica para cada paciente.<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-2067","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2067","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/comments?post=2067"}],"version-history":[{"count":7,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2067\/revisions"}],"predecessor-version":[{"id":7410,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2067\/revisions\/7410"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/media?parent=2067"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}