Unusual duplication in the pericentromeric region of chromosome 9 in a patient with phenotypic alterations

Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9. While the banding karyotype was indicative of a simple pericentric inversion of one chromosome 9 [46, XX, inv(9)(p12q13)], array comparative genomic hybridization showed a 6-Mb duplication, including 22 genes: arr[hg19] 9p13.1p11.2(38,869,901-44,870,714) x3 dn. Molecular cytogenetics using a panel of probes specific for the pericentromeric region of chromosome 9 showed an unusual, rearranged chromosome 9, der(9)(pter -> p11.2Sao Paulo Research Foundation (FAPESP), Brazil [2014/11572-8]Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, BrazilInstitut für Humangenetik, Universitätsklinikum Jena, Jena, GermanyGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, BR-04023900 Sao Paulo, SP, Brazil.FAPESP: 2014/11572-8Web of Scienc