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