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Article

Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.

Genetics and molecular research : GMR - 21 Sept 2011

Soysal Y, Vermeesch J, Davani N A, Şensoy N, Hekimler K, İmirzalıoğlu N

Abstract excerpt

We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a long narrow face,...

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PMID: 21968682
DOI: 10.4238/vol10-3gmr1339

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