Partial trisomy 2q and familial translocation t(2;12)(q31;q24)

Hum Genet. 1976 Apr 15;32(1):101-4. doi: 10.1007/BF00569983.

Abstract

Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31 leads to ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations*
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype
  • Translocation, Genetic*
  • Trisomy*