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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.|
Smith, M. D.
Melaragno, M. I.
Universidade Federal de São Paulo (UNIFESP)
translocation (4 ; 13)
3 : 1 segregation
|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.|
|Appears in Collections:||Em verificação - Geral|
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