Article
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
European journal of medical genetics - 1 Jan 2000
Van der Aa Nathalie, Rooms Liesbeth, Vandeweyer Geert, van den Ende Jenneke, Reyniers Edwin, Fichera Marco, Romano Corrado, Delle Chiaie Barbara, Mortier Geert, Menten Björn, Destrée Anne, Maystadt Isabelle, Männik Katrin, Kurg Ants, Reimand Tiia, McMullan Dom, Oley Christine, Brueton Louise, Bongers Ernie M H F, van Bon Bregje W M, Pfund Rolph, Jacquemont Sebastien, Ferrarini Alessandra, Martinet Danielle, Schrander-Stumpel Connie, Stegmann Alexander P A, Frints Suzanna G M, de Vries Bert B A, Ceulemans Berten, Kooy R Frank
Abstract excerpt
Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were...
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