Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosome

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosome

Autor Kulikowski, L. D. Google Scholar
Christ, L. A. Google Scholar
Belangero, Sintia Iole Autor UNIFESP Google Scholar
Brunoni, D. Google Scholar
Schwartz, S. Google Scholar
Melaragno, M. I. Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Case Western Reserve Univ
Univ Hosp Cleveland
Univ Chicago
Resumo We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high-resolution GTG handing and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromosomes (BACs), the karyotype was defined as 46,XX,del(9)(p23)[54]/ 46,XX,der(9)t(1;9)(q41;p23)[461, indicating the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% of the cells. the patient studied presents most of the manifestations of the 9p deletion and 1q duplication syndromes. the breakpoint was mapped at 9p23 with a loss of approximately 13.9-Mb of DNA. the duplicated segment consists of approximately 35 Mb from 1q41-qter region. We also suggest that a mechanism for telomere capture and interstitial telomeric sequences (ITs) is involved in a neotelomere formation in one of the cell lines. This study highlights the importance of combining high-resolution chromosome and FISH with BACs in order to make genotype -phenotype correlations and to understand the mechanisms involved chromosomal aberrations. (c) 2005 Wiley-Liss, Inc.
Palavra-chave neo-telomere
monosomy 9p
trisomy 1q
FISH-BACs
Idioma Inglês
Data de publicação 2006-01-01
Publicado em American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 1, p. 82-87, 2006.
ISSN 1552-4825 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 82-87
Fonte http://dx.doi.org/10.1002/ajmg.a.31045
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000234476900012
Endereço permanente http://repositorio.unifesp.br/handle/11600/28622

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