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

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

Author Malinverni, Andréa Cristina de Moraes Autor UNIFESP Google Scholar
Colovati, Mileny Esbravatti Stephano Autor UNIFESP Google Scholar
Perez, Ana Beatriz Alvarez Autor UNIFESP Google Scholar
Caneloi, Thamy P. Autor UNIFESP Google Scholar
Oliveira, Helio R., Jr. Autor UNIFESP Google Scholar
Kosyakova, Nadezda Google Scholar
Liehr, Thomas Google Scholar
Hamid, Ahmed B. Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Abstract 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
Keywords Acgh
Chromosome 9
Fish
Heterochromatic Variants
HeteromorphismsVariants
Inversion
Euchromatin
Sequences
Family
Bands
Language English
Sponsor Sao Paulo Research Foundation (FAPESP), Brazil [2014/11572-8]
Grant number FAPESP: 2014/11572-8
Date 2016
Published in Cytogenetic And Genome Research. Basel, v. 150, n. 2, p. 100-105, 2016.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Wiley
Extent 100-105
Origin https://doi.org/10.1159/000453574
Access rights Closed access
Type Article
Web of Science ID WOS:000394972200004
URI http://repositorio.unifesp.br/handle/11600/49262

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