Ring 13 in an adult male with a 13:13 translocation mother.
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.
D000328:Adult; D001827:Body Height; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013076:Sperm Count; D014178:Translocation, Genetic