{"id":456,"date":"2022-02-09T13:58:44","date_gmt":"2022-02-09T12:58:44","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=456"},"modified":"2025-06-26T11:31:51","modified_gmt":"2025-06-26T09:31:51","slug":"ern-ithaca-coimbra-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-coimbra-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre de Coimbra"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n


Unit\u00e9 locale de sant\u00e9 de Coimbra (ULS de Coimbra)<\/strong>
Quinta dos Vales
3041-801 COIMBRA
PORTUGAL<\/p>\n\n\n\n

\n
Site web<\/a><\/div>\n<\/div>\n\n\n\n

Plomb<\/h2>\n\n\n\n

Dr Lina Ramos<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: +351 239 480 638<\/p>\n\n\n\n

Fax<\/strong>: 351 239 717 216<\/p>\n\n\n\n

Courrier<\/strong>: genetic@chc.min-saude.pt<\/a><\/p>\n\n\n\n

Champ d'application<\/h2>\n\n\n\n

En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans tous les syndromes se caract\u00e9risant par des anomalies du d\u00e9veloppement et\/ou une d\u00e9ficience intellectuelle (DI). Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale (261 pour 10 000 f\u0153tus et nouveau-n\u00e9s selon les rapports EuroCAt), et 1 sur 40 est atteint de d\u00e9ficience intellectuelle. Par cons\u00e9quent, 3 \u00e0 5 % de toutes les naissances humaines pr\u00e9sentent ou d\u00e9velopperont une anomalie du d\u00e9veloppement, parmi lesquelles au moins 25 \u00e0 50 % sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Cette population consid\u00e9rable repr\u00e9sente en r\u00e9alit\u00e9 la juxtaposition d\u2019un tr\u00e8s grand nombre de troubles individuellement rares pr\u00e9sentant une extr\u00eame diversit\u00e9 de causes et de ph\u00e9notypes. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise de ce centre ITHACA comprennent :<\/p>\n\n\n\n

    \n
  • plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans Orphanet), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables que gr\u00e2ce aux technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryof\u00e9topathies d'origine environnementale<\/li>\n\n\n\n
  • >3 000 formes monog\u00e9niques et plusieurs centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA)<\/li>\n<\/ul>\n\n\n\n

    Service aux patients<\/h2>\n\n\n\n

    La population r\u00e9gionale<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[67],"center-status":[15],"class_list":["post-456","expert-centers","type-expert-centers","status-publish","hentry","country-portugal","center-status-full-member"],"acf":{"name-city":"Coimbra Center","representative":"Dr Lina Ramos ","latitude":"40.211490 ","longitude":"-8.429200","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Coimbra Center - ERN ITHACA<\/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:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-coimbra-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Coimbra Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Unidade Local de Sa\u00fade de Coimbra (ULS de Coimbra)Quinta dos Vales3041-801\u00a0COIMBRAPORTUGAL Lead Dr Lina Ramos Telephone: +351 239 480 638 Fax: 351 239 717 216 Mail: genetic@chc.min-saude.pt Scope The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). 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