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 | Zendy

Takeno S.S. | Zendy; Corbani M. | Zendy; Andrade J.A.D. | Zendy; Smith M. de A.C. | Zendy; Brui D. | Zendy; Melaragno M.I. | Zendy

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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

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.

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