The chromosome 2 distal short arm trisomy syndrome

J Pediatr. 1977 Dec;91(6):934-8. doi: 10.1016/s0022-3476(77)80893-7.


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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Bone Diseases / genetics*
  • Child, Preschool
  • Chromosomes, Human, 1-3*
  • Growth Disorders / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Penis / abnormalities
  • Syndrome
  • Trisomy*