Malformations in a child with dup (7pter-p15.1) and del (7q36-qter) as a result of familial pericentric inversion

Clin Genet. 1991 Jun;39(6):442-50. doi: 10.1111/j.1399-0004.1991.tb03056.x.

Abstract

We describe a child with multiple anomalies and severe retardation with dup 7pter-p15.1 and del 7q36-qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Aberrations / physiopathology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 7*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Intellectual Disability / physiopathology
  • Multigene Family*
  • Pedigree