Unusual duplication in the pericentromeric region of chromosome 9 in a patient with phenotypic alterations
Data
2016
Autores
Malinverni, Andréa Cristina de Moraes 
Colovati, Mileny Esbravatti Stephano
Perez, Ana Beatriz Alvarez
Caneloi, Thamy P.
Oliveira, Helio R., Jr.
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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 -> p11.2
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Cytogenetic And Genome Research. Basel, v. 150, n. 2, p. 100-105, 2016.