Deletion of the short arm of chromosome 9. A clinically recognisable entity

Eur J Pediatr. 1980 Sep;134(3):201-4. doi: 10.1007/BF00441473.

Abstract

A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 year-old male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, 6-12 and X*
  • Facial Bones / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Skull / abnormalities*
  • Syndrome