Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14


Autoria(s): GUILHERME, Roberta Santos; MELONI, Vera de Freitas Ayres; SODRE, Claudete Palmer; CHRISTOFOLINI, Denise Maria; PELLEGRINO, Renata; MELLO, Claudia Berlim de; CONLIN, Laura Kathleen; HUTCHINSON, Anne Lawlor; SPINNER, Nancy Bettina; BRUNONI, Decio; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria Isabel
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2010

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

http://dx.doi.org/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