Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13)

Am J Med Genet. 1989 Mar;32(3):411-6. doi: 10.1002/ajmg.1320320329.

Abstract

We report on cases of Greig syndrome segregating in a large kindred over four generations due to reciprocal translocation t(6;7)(q27;p13) and on a patient from this pedigree with a severe malformation syndrome due to duplication 7(p13----pter). The clinical findings are discussed as possible consequence of a gene mutation due to the break at 7p13.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Anthropometry
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 6*
  • Chromosomes, Human, Pair 7*
  • DNA Probes
  • Facial Bones / abnormalities
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Hypertelorism / genetics
  • Hypertelorism / pathology
  • Infant, Newborn
  • Male
  • Pedigree
  • Skull / abnormalities
  • Syndrome
  • Translocation, Genetic*

Substances

  • DNA Probes