Article
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
American journal of medical genetics. Part A - 1 Dec 2009
Andrieux Joris, Dubourg Christèle, Rio Marlène, Attie-Bitach Tania, Delaby Elsa, Mathieu Michèle, Journel Hubert, Copin Henri, Blondeel Eléonore, Doco-Fenzy Martine, Landais Emilie, Delobel Bruno, Odent Sylvie, Manouvrier-Hanu Sylvie, Holder-Espinasse Muriel
Abstract excerpt
Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadias). We report here...
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