Article
7q11.23 Microduplication: a recognizable phenotype.
Clinical genetics - 1 Feb 2013
Dixit A, McKee S, Mansour S, Mehta S G, Tanteles G A, Anastasiadou V, Patsalis P C, Martin K, McCullough S, Suri M, Sarkar A
Abstract excerpt
Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the...
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