Double independent balanced translocation in a girl with mild phenotypical stigmata

Ann Genet. 1986;29(1):62-4.

Abstract

A case of de novo double independent balanced translocation t(1;7)(q44;q22), t(8;10)(q22;q26) in a girl with mild phenotypical stigmata is reported. Beside hyposomia with retarded bone age and slightly dysmorphic ear, no other abnormality was detectable and the psychomotor development was normal. A review of the similar casuistry in literature is made.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Karyotyping
  • Translocation, Genetic*