A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21
“A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21”, vol. 15, p. -, 2016.
, Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to this unique chromosomal abnormality. Array comparative genomic hybridization (array CGH) revealed a gain in copy number on the long arm of chromosome 11, spanning at least 18.22 Mb.