A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases

Am J Med Genet. 1991 Jan;38(1):1-8. doi: 10.1002/ajmg.1320380102.

Abstract

A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 13 / ultrastructure*
  • Chromosomes, Human, Pair 16 / ultrastructure*
  • Facial Expression
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Multigene Family
  • Pedigree
  • Translocation, Genetic*