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PMID: 6604485 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Annales de genetique ·Vol. 26 ·No. 2 ·1983-00-00 ·Pages 112-5

de Almeida JC, Llerena JC, Gomes DM, Martins RR, Pereira ET

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.

MeSH Terms
Adult Body Height Chromosome Aberrations Chromosomes, Human, 13-15/ultrastructure Female Heterozygote Humans Intellectual Disability/genetics Male Sperm Count Translocation, Genetic
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
de Almeida J C
Llerena J C
Gomes D M
Martins R R
Pereira E T
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1983-00-00
Pages
112-5
Language
English
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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