An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat

J Med Genet. 1973 Dec;10(4):379-84. doi: 10.1136/jmg.10.4.379.

Abstract

A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will be revaluated and reinterpreted. The mother's karyotype was erroneously interpreted earlier as a 21/22 translocation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Body Height
  • Body Weight
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, 16-18*
  • Chromosomes, Human, 21-22 and Y*
  • Dermatoglyphics
  • Female
  • Humans
  • Intellectual Disability
  • Intelligence Tests
  • Karyotyping
  • Male
  • Maternal Age
  • Pedigree
  • Staining and Labeling