Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes

Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes

Autor Kulikowski, Leslie Domenici Autor UNIFESP Google Scholar
Bellucco, Fernanda T. S. Autor UNIFESP Google Scholar
Belangero, Sintia Iole Autor UNIFESP Google Scholar
Christofolini, Denise M. Autor UNIFESP Google Scholar
Smith, Marilia de A. C. Autor UNIFESP Google Scholar
Mello, Claudia B. de Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Univ Mackenzie
Resumo Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature. (C) 2008 Wiley-Liss, Inc.
Assunto duplication 1q41
trisomy 1q
mental retardation
FISH-BACs
Idioma Inglês
Data 2008-10-15
Publicado em American Journal of Medical Genetics Part A. Malden: Wiley-Blackwell, v. 146A, n. 20, p. 2663-2667, 2008.
ISSN 1552-4825 (Sherpa/Romeo, fator de impacto)
Editor Wiley-Blackwell
Extensão 2663-2667
Fonte http://dx.doi.org/10.1002/ajmg.a.32510
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000260122600012
URI http://repositorio.unifesp.br/handle/11600/30970

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