Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)

Am J Med Genet. 1992 Mar 1;42(5):716-9. doi: 10.1002/ajmg.1320420518.

Abstract

A male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12----5pter and deficiency of 10p13----10pter. Each of his parents was a carrier of a balanced reciprocal translocation. A third translocation was found in the maternal grandfather. The pedigree of each translocation and the segregation of parental reciprocal translocations are discussed.

Publication types

  • Case Reports

MeSH terms

  • Amino Acids / analysis
  • Brain Diseases / embryology
  • Brain Diseases / genetics*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 5
  • Epilepsy / genetics*
  • Genetic Carrier Screening*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Multigene Family / genetics
  • Pedigree
  • Translocation, Genetic / genetics*

Substances

  • Amino Acids