{"id":14222,"date":"2019-07-07T15:07:20","date_gmt":"2019-07-07T13:07:20","guid":{"rendered":"http:\/\/urvistahermosa.com\/fr\/?p=2204"},"modified":"2019-07-07T15:07:20","modified_gmt":"2019-07-07T13:07:20","slug":"unite-de-genetique-vistahermosa-hopital-a-identifie-anomalie-chromosomique-liee-a-ectrodactilia","status":"publish","type":"post","link":"https:\/\/urvistahermosainternational.com\/fr\/2019\/07\/07\/unite-de-genetique-vistahermosa-hopital-a-identifie-anomalie-chromosomique-liee-a-ectrodactilia\/","title":{"rendered":"Unit\u00e9 de G\u00e9n\u00e9tique Vistahermosa h\u00f4pital a identifi\u00e9 une anomalie chromosomique li\u00e9e \u00e0 ectrodactilia"},"content":{"rendered":"

Le centre, qui collabore avec l’Unit\u00e9 de reproduction Vistahermosa, a pr\u00e9sent\u00e9 cette \u00e9tude lors du premier congr\u00e8s interdisciplinaire de g\u00e9n\u00e9tique humaine tenue \u00e0 Madrid<\/strong><\/p>\n

Le jeu de syndrome de ectrodactilia ou main-pied partie (SHFM) est une maladie cong\u00e9nitale h\u00e9t\u00e9rog\u00e8ne caract\u00e9ris\u00e9e par l’absence des rayons centraux des mains et des pieds, ce qui affecte de fa\u00e7on al\u00e9atoire un \u00e0 quatre membres. Les caract\u00e9ristiques les plus communes sont les sindactilida avec oligodactylie, la m\u00e9diane des fentes mains et les pieds et les doigts oppos\u00e9s, qui se traduit par l’apparition connue sous le nom \u00ab griffe de homard \u00bb.<\/p>\n

Ceci est un syndrome avec un mode autosomique dominant, p\u00e9n\u00e9trance incompl\u00e8te (moins de 50%) et expressivit\u00e9 variable et peut affecter un ou plusieurs membres. OMIM est d\u00e9crit dans le syndrome SHFM os longs d\u00e9ficients (SHFLD3, # 612576 MIM) doublements associ\u00e9e citobanda 17p13.3. Dans cette r\u00e9gion, est le g\u00e8ne candidat responsable du syndrome, appel\u00e9 BHLHA9, qui code pour un facteur de transcription li\u00e9 au d\u00e9veloppement des extr\u00e9mit\u00e9s.<\/p>\n

Dra. Isabel Ochando, chef de cytog\u00e9n\u00e9tique et le Programme Qualit\u00e9 de l’Unit\u00e9 de G\u00e9n\u00e9tique Vistahermosa a r\u00e9cemment pr\u00e9sent\u00e9 une affaire li\u00e9e \u00e0 la maladie dans le I Congr\u00e8s interdisciplinaire sur la g\u00e9n\u00e9tique humaine tenue \u00e0 Madrid du 25 au 28 Avril . Ceci est un 6 mois ectrodactilia pr\u00e9sentatrice dans les deux mains, deux doigts sur sa main gauche et trois \u00e0 droite.<\/p>\n

L’\u00e9quipement de l’Unit\u00e9 de g\u00e9n\u00e9tique a men\u00e9 une \u00e9tude de CGH au patient identifi\u00e9 un doublement de
\ncitobanda 17p13.3, qui comprend BHLHA9, et TUSC5 g\u00e8nes ywhae. Par cons\u00e9quent, les r\u00e9sultats de cette \u00e9tude nous permettent de conclure que dans les cas d’aplasie des os longs ou ectrodactilia qui ne comprend pas les quatre membres, doit \u00eatre consid\u00e9r\u00e9e comme l’\u00e9tude du g\u00e8ne de duplications BHLHA9.<\/p>\n","protected":false},"excerpt":{"rendered":"

Le centre, qui collabore avec l’Unit\u00e9 de reproduction Vistahermosa, a pr\u00e9sent\u00e9 cette \u00e9tude lors du premier congr\u00e8s interdisciplinaire de g\u00e9n\u00e9tique humaine tenue \u00e0 Madrid Le jeu de syndrome de ectrodactilia ou main-pied partie (SHFM) est une maladie cong\u00e9nitale h\u00e9t\u00e9rog\u00e8ne caract\u00e9ris\u00e9e par l’absence des rayons centraux des mains et des pieds, ce qui affecte de fa\u00e7on […]<\/p>\n","protected":false},"author":1,"featured_media":14249,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[7],"tags":[],"class_list":["post-14222","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sala-de-prensa"],"acf":[],"yoast_head":"\nUnit\u00e9 de G\u00e9n\u00e9tique Vistahermosa h\u00f4pital a identifi\u00e9 une anomalie chromosomique li\u00e9e \u00e0 ectrodactilia - Ur international FR<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/urvistahermosainternational.com\/fr\/2019\/07\/07\/unite-de-genetique-vistahermosa-hopital-a-identifie-anomalie-chromosomique-liee-a-ectrodactilia\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Unit\u00e9 de G\u00e9n\u00e9tique Vistahermosa h\u00f4pital a identifi\u00e9 une anomalie chromosomique li\u00e9e \u00e0 ectrodactilia - 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