A mildly retarded woman with 46,XX/47,XX, + 18 mosaicism.
We describe a mildly retarded woman with trisomy 18 mosaicism. The phenotype did not suggest trisomy 18, but the mild mental retardation, asymmetric face with bushy eyebrows and thick lips, short stature, and older maternal age raised the suspicion of a chromosomal cause for her condition.
D000328:Adult; D002902:Chromosomes, Human, 16-18; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D014314:Trisomy