Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve

Am J Med Genet. 1991 Mar 15;38(4):608-11. doi: 10.1002/ajmg.1320380421.

Abstract

We report on a newborn infant with a deletion of 6q and absent pulmonary valve. His chromosome constitution was 46,XY,del (6) (q15q21). To our knowledge this is the first case with such combination. Some of his clinical features were found in common in 2 previous 6q- cases with the same breakpoints.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / ultrastructure*
  • Humans
  • Infant, Newborn
  • Intellectual Disability
  • Pulmonary Valve / abnormalities*