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

Date
2004-08-30Author
Takeno, S. S.
Corbani, M.
Andrade, JAD
Smith, M. D.
Brunoni, D.
Melaragno, M. I.
Type
ArtigoISSN
0148-7299Is part of
American Journal of Medical Genetics Part ADOI
10.1002/ajmg.a.30224Metadata
Show full item recordAbstract
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.
Citation
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 129A, n. 2, p. 180-183, 2004.Keywords
duplication 4pdeletion 4p
translocation (4 ; 13)
3 : 1 segregation
Wolf-Hirschhorn syndrome
Collections
- Em verificação - Geral [7511]