An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment |
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| Authors: | Cé line Pebrel-Richard,Sté phan Kemeny,Laetitia Gouas,Elé onore Eymard-Pierre,Nathalie Blanc,Christine Francannet,Andreï Tchirkov,Carole Goumy,Philippe Vago |
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| Affiliation: | 1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, 1 place Lucie Aubrac, 63003 Clermont-Ferrand Cedex1, France;2. Génétique Médicale, CHU Clermont-Ferrand, CHU Estaing, F-63000, France |
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| Abstract: | Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency. |
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| Keywords: | Atypical 22q11.2 microduplication Psychomotor impairment Low-copy repeats |
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