Terminal deletions of the long arm of chromosome 7: five new cases

Am J Med Genet. 1990 May;36(1):53-5. doi: 10.1002/ajmg.1320360112.

Abstract

Twenty-two cases of terminal deletions of the long arm of chromosome 7 have been reported. We present 5 new cases, 3 of which were ascertained due to fetal holoprosencephaly, one due to anencephaly, and one due to multiple structural defects in a 15-year-old boy. The presence of holoprosencephaly in 3 of the 5 cases reported herein and in 2 previously reported cases suggests that this manifestation may be commonly observed in individuals with deletion 7q.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Brain / abnormalities
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Female
  • Fetus / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Prenatal Diagnosis