Abnormalities of human autosomes. I. Ambigous genitalia associated with a translocation 46,XY, t(Cq+;Cq-).
Ambiguity of the external genitalia, along with other milder developmental defects, occurred in a boy with an autosomal aberration, translocation between long arms of two of the shorter members of Group C. The case raises the possibility of a specific effect on development of the external genitalia of autosomal loci and emphasizes that pseudohermaphroditism can on occasion result from autosomal abberations.
D000077:Acetabulum / Q000002:abnormalities; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D012734:Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D005145:Face; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic