Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation

Am J Med Genet. 1987 Jan;26(1):203-6. doi: 10.1002/ajmg.1320260130.

Abstract

We report on a male infant with a duplication 9p (pter----q13) and duplication 16p (p13----pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene-Diagram Model of Jalbert et al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 16*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Translocation, Genetic*