18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.
The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).
D000328:Adult; D001827:Body Height; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D004948:Esotropia / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D009369:Neoplasms / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic