An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15

Ann Genet. 1975 Jun;18(2):99-103.

Abstract

A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her mother, pregnant at the time of examination, possessed a balanced translocation which, after banding techniques, was identified as t(4;15)(p16;q22). Amnio-centesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. Comparison of the proposita and aborted fetus of this family with the 5 reported other cases of "partial trisomy 15" does not allow for a precise recognizable clinical syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Amniocentesis
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, 13-15*
  • Chromosomes, Human, 16-18
  • Chromosomes, Human, 21-22 and Y
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Microcephaly / genetics
  • Pedigree
  • Pregnancy
  • Translocation, Genetic*
  • Trisomy*