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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
Author(s) -
Takeno S.S.,
Corbani M.,
Andrade J.A.D.,
Smith M. de A.C.,
Brui D.,
Melaragno M.I.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30224
Subject(s) - chromosomal translocation , monosomy , trisomy , genetics , gene duplication , daughter , biology , karyotype , chromosome , evolutionary biology , gene
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. © 2004 Wiley‐Liss, Inc.