Duplication of 5q11.2----q13.1 from a familial (5;20) balanced insertion

Am J Med Genet. 1989 Jun;33(2):220-3. doi: 10.1002/ajmg.1320330215.

Abstract

A 2-year-old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2----q13.1. A balanced insertion of this 5q segment into chromosome 20q proximal to the centromere has been found in his father, uncle, and paternal grandmother.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 20*
  • Chromosomes, Human, Pair 5*
  • Dermatoglyphics
  • Humans
  • Karyotyping
  • Male
  • Multigene Family*
  • Pedigree
  • Psychomotor Disorders / genetics*
  • Translocation, Genetic*