Microduplication 22q11.2

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

Y. Soysal, Vermeesch, J., Davani, N. A., Şensoy, N., Hekimler, K., and Imirzalıoğlu, N., Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech, vol. 10. pp. 2148-2154, 2011.

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.

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