The chromosome 2 distal short arm trisomy syndrome.
A trisomy for the distal short arm of chromosome 2 (2p23 leads to 2pter) resulted in similar phenotypic and developmental abnormalities in three related males. The cytogenetic defect was traced to a familial balanced 2;3 translocation [t(2;3) (p23;27)]. Comparison of these patients with the seven previously published cases of 2p partial trisomy reveals a pattern of common features including severe mental and growth retardation, a characteristics facial dysmorphism particularly affecting the eyes, abnormalities of the sternum, spine, and digits, a heart defect, and, in males, cryptorchidism and a striking genital anomaly consisting of a very small penis buried in dorsally fused scrotal skin.
D000328:Adult; D001847:Bone Diseases / Q000235:genetics*; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010413:Penis / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy