Familial partial trisomy 5p resulting from segregation of an insertional translocation

Clin Genet. 1988 Jun;33(6):404-9. doi: 10.1111/j.1399-0004.1988.tb03472.x.


A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Chromosomes, Human, Pair 3
  • Chromosomes, Human, Pair 5*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Middle Aged
  • Pedigree
  • Translocation, Genetic*
  • Trisomy*