Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
19/10/2012
19/10/2012
2010
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Resumo |
We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture. (C) 2010 Wiley-Liss, Inc. FAPESP, Brazil[07/58735-5] Ring chromosome 20 Foundation |
Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.152A, n.11, p.2865-2869, 2010 1552-4825 http://producao.usp.br/handle/BDPI/22920 10.1002/ajmg.a.33689 |
Idioma(s) |
eng |
Publicador |
WILEY-LISS |
Relação |
American Journal of Medical Genetics Part A |
Direitos |
restrictedAccess Copyright WILEY-LISS |
Palavras-Chave | #instability #follow-up #ring chromosome and SNP-array #COMPLEX PARTIAL SEIZURES #SUBTELOMERIC SEQUENCES #TERMINAL DELETION #14-CHROMOSOME #DUPLICATION #INSTABILITY #DELINEATION #EPILEPSY #Genetics & Heredity |
Tipo |
article original article publishedVersion |