Duplication of 16q and deletion of 15q

Am J Med Genet. 1989 Oct;34(2):183-6. doi: 10.1002/ajmg.1320340210.

Abstract

A patient with distal arthrogryposis, congenital dislocations of the hips, a prominent forehead, epicanthal folds, thin lips, and a poorly defined philtrum was found to have a deletion of 15q and a duplication of 16q. Her mother, maternal grandmother, and great grandmother had a balanced t(15q-, 16q+). The gene for adenine phosphoribosyl transferase was assignable to the 16q22----16qter area that was duplicated.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenine Phosphoribosyltransferase / genetics*
  • Amniocentesis
  • Arthrogryposis / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 16*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Multigene Family*
  • Pedigree
  • Pentosyltransferases / genetics*
  • Pregnancy
  • Translocation, Genetic*

Substances

  • Pentosyltransferases
  • Adenine Phosphoribosyltransferase