Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement

Am J Med Genet. 1997 Dec 19;73(3):327-9.

Abstract

We report on a 16-week-old male fetus with partial trisomy 16 and partial monosomy 22 resulting from 3:3 adjacent-2 segregation of a maternal balanced complex chromosome translocation involving chromosomes 5, 16, and 22. The karyotype of the 29-year-old phenotypically normal mother was 46,XX,t(5;16;22)(q31.3;q12.1;q11.2). The karyotype of the fetus was 46,XY,der (5)t(5;16;22)(q31.3;q12.1;q11.2),+der(16) t(5;16;22)mat,-22. The fetus had multiple congenital anomalies, including bilateral cleft lip and palate.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 22*
  • Female
  • Fetal Death / genetics
  • Humans
  • Male
  • Monosomy / genetics*
  • Pregnancy
  • Translocation, Genetic*
  • Trisomy / genetics*