A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome

Am J Med Genet. 1983 Nov;16(3):313-21. doi: 10.1002/ajmg.1320160304.


A translocation t(3;7) (p21.l;p13) segregating through four generations was found to be invariably associated with the Greig cephalopolysyndactyly syndrome (GS). High resolution chromosome analyses using G and R banding did not uncover any imbalance of the affected chromosomes, nor were the late replicating patterns changed. One girl with the GS died of medulloblastoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X*
  • Craniofacial Dysostosis / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Pedigree
  • Syndactyly / genetics*
  • Syndrome
  • Translocation, Genetic*