A family with two different chromosomal translocations

Ann Genet. 2002 Oct-Dec;45(4):185-7. doi: 10.1016/s0003-3995(02)01145-0.

Abstract

The proband was a 22-year-old woman who had two spontaneous abortions in the first trimester of pregnancy. She had a consanguineous marriage with no history of malformation or developmental disorders in the family. Her gynecological examination was normal. Chromosome analysis of the family showed two different katyotypes 46,XY,t(1;16)(p22;p13) and 46,XX,t(1;16)(q24;q24) using high-resolution banding (HRB). Proband's family was also examined for chromosome analysis. A t(1;16)(p22;p13) was found in the husband's father and other relatives, and a t(1;16)(q24;q24) translocation in the proband's family. This second tanslocation is not found in her parents.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Spontaneous / genetics*
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 16*
  • Female
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Translocation, Genetic*