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

作者信息

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

出版信息

Ann Genet. 1983;26(2):112-5.

PMID:6604485
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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