Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Prenat Diagn. 1999 Sep;19(9):884-6. doi: 10.1002/(sici)1097-0223(199909)19:9<884::aid-pd655>3.0.co;2-w.

Abstract

It has been postulated that the deletion of band 13q22 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22-->qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Segregation*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 5
  • Female
  • Humans
  • Monosomy*
  • Pedigree
  • Polydactyly / genetics
  • Toes / abnormalities*
  • Translocation, Genetic*
  • Trisomy*