De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes

Am J Med Genet. 1994 Nov 1;53(2):165-71. doi: 10.1002/ajmg.1320530209.

Abstract

A de novo 17q paracentric inversion mosaicism is detected in a fetus with type IV short rib (polydactyly) syndrome (Beemer-Langer). The cytogenetic finding in our case suggests a possible location of the gene or cluster of linked genes responsible for SR (P) S type IV to 17q21 or 17q23. Since this chromosome abnormality has not been described in short rib polydactyly syndromes and the existence of type IV SR (P) S has been controversial, the literature of this entity is reviewed with special consideration to the classification of short rib polydactyly syndromes.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 17*
  • Cytogenetics
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mosaicism*
  • Multigene Family
  • Pregnancy
  • Short Rib-Polydactyly Syndrome / classification*
  • Short Rib-Polydactyly Syndrome / diagnosis
  • Short Rib-Polydactyly Syndrome / genetics*