Two sibs with partial trisomy 2q

Am J Med Genet. 1997 May 16;70(2):166-70.

Abstract

We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3-q32.1) into 5q.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 2 / genetics*
  • Ear / abnormalities
  • Face / abnormalities
  • Female
  • Genitalia / abnormalities
  • Growth Disorders / congenital
  • Humans
  • Karyotyping
  • Kidney / abnormalities
  • Male
  • Nose / abnormalities
  • Trisomy*