Literature DB >> 6604485

Ring 13 in an adult male with a 13:13 translocation mother.

J C de Almeida, J C Llerena, D M Gomes, R R Martins, E T Pereira.   

Abstract

A male with a ring 13 chromosome [r(13)(p11q34)], mild mental retardation, short stature, oligoasthenospermia, and few dysmorphisms is reported. His mother who had a poor reproductive history is carrier of a t(13q13q), featuring a dicentric NOR-negative element. The clinical significance of the r(13) and the mother's unusual karyotype are discussed.

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Year:  1983        PMID: 6604485

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  4 in total

1.  Molecular mechanism in the formation of a human ring chromosome 21.

Authors:  C Wong; H H Kazazian; G Stetten; W C Earnshaw; M L Van Keuren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

2.  A somatic origin of homologous Robertsonian translocations and isochromosomes.

Authors:  W P Robinson; F Bernasconi; S Basaran; M Yüksel-Apak; G Neri; F Serville; P Balicek; R Haluza; L M Farah; G Lüleci
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

3.  Familial inv(1) (p3500q21.3) associated with azoospermia.

Authors:  H Rivera; M C Alvarez-Arratia; M Moller; M Díaz; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

Authors:  A J Mears; H el-Shanti; J C Murray; H E McDermid; S R Patil
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

  4 in total

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