Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion

Hum Genet. 1982;62(2):113-6. doi: 10.1007/BF00282296.

Abstract

Paracentric inversion of chromosome 7 was found in a female infant with multiple malformations and in her phenotypically normal mother. Examination of prometaphase chromosomes revealed an additional small dark band on the inverted chromosome 7 of the girl. It was assumed that an unequal crossing over at the base of a meiotic loop of chromosome 7 had occurred in the mother and resulted in a tiny interstitial duplication in the girl.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Banding
  • Chromosome Inversion*
  • Chromosomes, Human, 6-12 and X*
  • Crossing Over, Genetic
  • Female
  • Humans
  • Hydrocephalus / genetics
  • Infant, Newborn
  • Meiosis
  • Phenotype
  • Skull / abnormalities