Ring chromosome 10: report on two patients and review of the literature
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10
Tipo de produção
article
Data de publicação
2013
Editora
SPRINGER HEIDELBERG
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Autores
GUILHERME, Roberta Santos
ALONSO, Luis Garcia
MELONI, Vera Ayres
CHRISTOFOLINI, Denise Maria
MELARAGNO, Maria Isabel
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Citação
JOURNAL OF APPLIED GENETICS, v.54, n.1, p.35-41, 2013
Resumo
Ring chromosome 10-r(10)-is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.
Palavras-chave
FISH, SNP-array, Ring chromosome, Ring instability
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