Duplication 9p and their implication to phenotype

Duplication 9p and their implication to phenotype

Author Guilherme, Roberta Santos Autor UNIFESP Google Scholar
Meloni, Vera Ayres Autor UNIFESP Google Scholar
Perez, Ana Beatriz Alvarez Autor UNIFESP Google Scholar
Pilla, Ana Luiza Autor UNIFESP Google Scholar
Ramos, Marco Antonio Paula de Autor UNIFESP Google Scholar
Dantas, Anelisa Gollo Autor UNIFESP Google Scholar
Takero, Sylvia Satomi Autor UNIFESP Google Scholar
Kulikowski, Leslie Domenici Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Abstract Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations.Methods: the rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes.Results: Two patients presented de novo dicentric chromosomes: der(9; 15)t(9; 15)(p11.2;p13) and der(9; 21)t(9; 21) (p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9; 12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. the break in the psu i(9) (p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9; 18)(p11.2; p11.31) mat.Conclusions: the patients with trisomy 9p present a well-recognizable phenotype due to facial appearance, although the genotype-phenotype correlation can be difficult due to concomitant partial monosomy of other chromosomes. the chromosome 9 is rich in segmental duplication, especially in pericentromeric region, with high degree of sequence identity to sequences in 15p, 18p and 21p, chromosomes involved in our rearrangements. Thus, we suggest that chromosome 9 is prone to illegitimate recombination, either intrachromosomal or interchromosomal, which predisposes it to rearrangements, frequently involving pericentromeric regions.
Keywords 9p duplication
Trisomy 9p
Karyotype-phenotype correlation
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number FAPESP: 2012/51150-0
FAPESP: 2012/15572-7
Date 2014-12-20
Published in Bmc Medical Genetics. London: Biomed Central Ltd, v. 15, 8 p., 2014.
ISSN 1471-2350 (Sherpa/Romeo, impact factor)
Publisher Biomed Central Ltd
Extent 8
Origin http://dx.doi.org/10.1186/s12881-014-0142-1
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000348677600001
URI http://repositorio.unifesp.br/handle/11600/38560

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