Chromosome 6q deletions: a report of two additional cases and a review of the literature

Am J Med Genet. 1990 Jan;35(1):79-84. doi: 10.1002/ajmg.1320350115.


Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter----q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter----q23::q25----qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Female
  • Fetal Growth Retardation / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Retina / abnormalities