| Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome? | |
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MedLine Citation:
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PMID: 22153181 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report a family with a rare association of congenital bilateral cataract and cleft palate that has not to our knowledge been previously reported. The lineage has unveiled abnormalities over four generations affecting 21 people with congenital bilateral cataract, with or without cleft palate. The transmission seems autosomal dominant. Four brothers and sisters presented with this defect, and a fifth sister is healthy. The mother has facial dimorphism, congenital bilateral cataract, submucous cleft palate, clinodactyly, and scoliosis. The propositus' karyotype was normal. Array comparative genomic hybridisation (CGH) analysis showed an interstitial amplification in Xp21.1, found in the mother, in all the affected siblings but one, and in the healthy girl. Thisl association is not rare and has been reported in over 50 syndromes but rarely in familial observations. Based on the genetic-clinical discordance we wonder about the deleterious impact of the Xp21.1 amplification that might be a copy number polymorphism. |
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Authors:
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Caroline François-Fiquet; Olivier Wavreille; Marie-Laurence Poli Merol; Martine Doco-Fenzy |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-5 |
Journal Detail:
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Title: The British journal of oral & maxillofacial surgery Volume: - ISSN: 1532-1940 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8405235 Medline TA: Br J Oral Maxillofac Surg Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Pediatric Surgery, American Memorial Hospital, CHU, Reims, France; Department of Genetics, Hôpital Maison-Blanche, CHU, Reims, France; EA 3801, UFR Medecine, University of Champagne Ardenne, Reims, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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