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

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

Annales de Genetique 26(2): 112-115

1983


ISSN/ISBN: 0003-3995
PMID: 6604485
Document Number: 205974
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.

Document emailed within 1 workday
Secure & encrypted payments