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Title: 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
Authors: Takeno, S. S.
Corbani, M.
Andrade, JAD
Smith, M. D.
Brunoni, D.
Melaragno, M. I.
Universidade Federal de São Paulo (UNIFESP)
Keywords: duplication 4p
deletion 4p
translocation (4 ; 13)
3 : 1 segregation
Wolf-Hirschhorn syndrome
Issue Date: 30-Aug-2004
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 129A, n. 2, p. 180-183, 2004.
Abstract: 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.
ISSN: 0148-7299
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Appears in Collections:Em verificação - Geral

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