{"id":83279,"date":"2000-08-02T00:00:00","date_gmt":"2000-08-02T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/cromosomopatias-mosaicismos-de-bajo-grado-y-heteromorfismos-cromosomicos-epidemiologia-y-significacion-clinica\/"},"modified":"2000-08-02T00:00:00","modified_gmt":"2000-08-02T00:00:00","slug":"cromosomopatias-mosaicismos-de-bajo-grado-y-heteromorfismos-cromosomicos-epidemiologia-y-significacion-clinica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/cromosomopatias-mosaicismos-de-bajo-grado-y-heteromorfismos-cromosomicos-epidemiologia-y-significacion-clinica\/","title":{"rendered":"Cromosomopatias, mosaicismos de bajo grado y heteromorfismos cromos\u00f3micos. epidemiolog\u00eda y significacion clinica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Marta Moreno Garcia <\/strong><\/h2>\n<p>Estudio epidemiol\u00f3gico de la frecuencia de alteraciones cromos\u00f3micas y de los diferentes tipos de cromosomopat\u00edas en individuos sanos, en personas con antecedentes familiares y en individuos con patolog\u00eda. Frecuencia de cromosomopat\u00edas en pacientes con retraso mental, rasgos fenot\u00edpicos, cardiopat\u00eda, alteraciones renales, digestivas, pulmonares, oculares, en piel, en sistema nervioso central, esquel\u00e9ticas, convulsiones, microcefalia, macrocefalia, polidactilia, sindactilia, labio leporino\/paladar hendido, hiperlaxitud articular, artrogriposis, talla baja, talla alta, edema en el dorso del pie al nacimiento, amenorrea, alteraciones en genitales femeninos, criptorquidia, hipospadias, otras alteraciones en genitales masculinos, ginecomastia, azoospermia, oligospermia, pubertad retrasada, pubertad precoz, genitales ambiguos, tumores, esterilidad y abortos de repetici\u00f3n. estudio de la frecuencia y significaci\u00f3n cl\u00ednica de los mosaicismos de bajo grado. Observamos una frecuencia significativamente aumentada de mosaicismos de bajo grado en padres de individuos afectos de anomal\u00edas cromos\u00f3micas (1,93%), en pacientes estudiados por abortos de repetici\u00f3n (1,68%) y en individuos estudiados por esterilidad (1,60%) con respecto a la frecuencia encontrada en el grupo control (0,22%). Estudio de la frecuencia y significaci\u00f3n cl\u00ednica de los heteromorfismos cromos\u00f3micos. Encontramos una frecuencia de heteromorfismos cromos\u00f3micos significativamente aumentada, con respecto a la observada en los controles (10,83%), en pacientes con azoospermia (25,59%), con neoplasias (23,10%), ginecomastia (23,08%), anomal\u00edas esquel\u00e9ticas (22,82%), anomal\u00edas en genitales masculinos (distintas de criptorquidia e hipospadias\/epispadias) (21,70%), anomal\u00edas en genitales femeninos (21,69%), cardiopat\u00eda (20%), anomal\u00edas renales (20%), rasgos fenot\u00edpicos (16,53%) y retraso mental (16,17%). Tambi\u00e9n observamos una frecuencia incrementada de heteromorfismos cromos\u00f3micos en individuos estudiados por abortos de repetici\u00f3n (17,91%) y en familiares de pacientes afectos de anomal\u00edas cromos\u00f3micas (17,27%).<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Cromosomopatias, mosaicismos de bajo grado y heteromorfismos cromos\u00f3micos. epidemiolog\u00eda y significacion clinica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Cromosomopatias, mosaicismos de bajo grado y heteromorfismos cromos\u00f3micos. epidemiolog\u00eda y significacion clinica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Marta Moreno Garcia <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 08\/02\/2000<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Angel Nogales Espert<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Fuente p\u00e9rez pedro de la <\/li>\n<li>jeronimo Sandiumenge bech (vocal)<\/li>\n<li>mercedes Bernacer borja (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda Jimenez bustos (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Marta Moreno Garcia Estudio epidemiol\u00f3gico de la frecuencia de alteraciones cromos\u00f3micas y de los diferentes tipos de [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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