Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

doi:10.1016/j.ejmg.2012.03.008

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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...

Topics

Apraxias
Child
Cognition
Comparative Genomic Hybridization
Cri-du-Chat Syndrome
Female
Humans
Phenotype

Source

Open in PubMed

Identifiers

PMID: 22510527
DOI: 10.1016/j.ejmg.2012.03.008

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