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

Takeno, S. S.; Corbani, M.; Andrade, JAD; Smith, M. D.; Brunoni, D.; Melaragno, M. I.

Date

2004-08-30

Author

Takeno, S. S.

Corbani, M.

Andrade, JAD

Smith, M. D.

Brunoni, D.

Melaragno, M. I.

Type

Artigo

ISSN

0148-7299

Is part of

American Journal of Medical Genetics Part A

DOI

10.1002/ajmg.a.30224

Metadata

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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.

Citation

American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 129A, n. 2, p. 180-183, 2004.