Interstitial deletion of 6q21-q23 associated with split hand

Am J Med Genet. 1997 Mar 31;69(3):268-70. doi: 10.1002/(sici)1096-8628(19970331)69:3<268::aid-ajmg10>3.0.co;2-p.

Abstract

We report on a 7-month-old boy with interstitial deletion of 6q21-q23 and split-hand defect. He died at 7 months. This is the fifth patient with distal limb anomaly associated with a rearrangement of 6q21 region, and supports previous suggestions that there may be candidate gene(s) for distal limb development in the 6q21 region.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male