Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation

Hum Genet. 1979 Sep 2;51(1):55-61. doi: 10.1007/BF00278292.

Abstract

A woman presented a complex chromosome rearrangement with translocation between chromosome 2 and 4 in addition to an insertion of the band 4q12 leads to q13 in the long arm of chromosome 18. The authors present a case study of the daughter who displayed the abnormal chromosome 18 and trisomy of band 4q12 leads to q13.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Banding
  • Chromosomes, Human, 1-3
  • Chromosomes, Human, 16-18
  • Chromosomes, Human, 4-5
  • Female
  • Growth Disorders / genetics
  • Humans
  • Karyotyping
  • Language Development Disorders / genetics
  • Pedigree
  • Psychomotor Disorders / genetics*
  • Translocation, Genetic
  • Trisomy*