Article
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.
European journal of medical genetics - 1 Jun 2012
Marignier Stéphanie, Lesca Gaetan, Marguin Jessica, Bussy Gérald, Sanlaville Damien, des Portes Vincent
Abstract excerpt
We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically...
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