Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

@article{Smith1987GeneticRF,
  title={Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.},
  author={Ann Cm Smith and Karen Spuhler and Thomas Michael Williams and Thomas S. McConnell and Eva Sujansky and Arthur Robinson},
  journal={American journal of human genetics},
  year={1987},
  volume={41 6},
  pages={
          1083-103
        }
}
A rec(8) dup(q) syndrome, secondary to a pericentric inversion--inv(8)(p23q22)--has been identified in 26 probands from Hispanic kindreds in the southwestern United States. The clinical phenotype of the Hispanic rec(8) syndrome includes a dysmorphic facies, cardiovascular and urinary-tract malformations, and mental retardation. Segregation analysis utilizing pedigree and cytogenetic data from 31 kindreds including five additional kindreds from additional sources has provided computation of… CONTINUE READING