Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3 : 1 segregation of a maternal balanced t(4;13)(p16;q11) translocation

Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3 : 1 segregation of a maternal balanced t(4;13)(p16;q11) translocation

Autor Takeno, S. S. Google Scholar
Corbani, M. Google Scholar
Andrade, JAD Google Scholar
Smith, M. D. Google Scholar
Brunoni, D. Google Scholar
Melaragno, M. I. Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. the balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. the male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter. (C) 2004 Wiley-Liss, Inc.
Palavra-chave duplication 4p
deletion 4p
translocation (4 ; 13)
3 : 1 segregation
Wolf-Hirschhorn syndrome
Idioma Inglês
Data de publicação 2004-08-30
Publicado em American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 129A, n. 2, p. 180-183, 2004.
ISSN 0148-7299 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 180-183
Fonte http://dx.doi.org/10.1002/ajmg.a.30224
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000223478900015
Endereço permanente http://repositorio.unifesp.br/handle/11600/27889

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