A case of (13q;18q) translocation with proximal 13q monosomy.
A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D014178:Translocation, Genetic