Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
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Data
2015-03
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Resumo
We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with
r(13), and chromosome microarray analysis detected a 15.39 Mb
deletion in chromosome region 13q32.3-q34. This study is intended
as the registry of a rare case of chromosomal rearrangement involving
chromosome 13 in Central Brazil. Further studies are needed to define
whether genetic haploinsufficiency is associated with each major 13q
deletion anomaly.
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Palavras-chave
13q deletion, Ring chromosome 13, Complex phenotype, Fluorescence in situ hybridization, Chromosomal microarray analysis, Karyotype
Citação
MINASI, L. B.; PINTO, I. P.; DE ALMEIDA, J. G. de; MELO, A. V. de; CUNHA, D. M. C.; RIBEIRO, C. L.; SILVA, G. P.; BRASIL, M. G.; SILVA, D. M.; SILVA, C. C. da; CRUZ, A. D. da. Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. Genetics and Molecular Research, Ribeirão Preto, v. 14, n. 1, p. 1692-1699, Mar. 2015.