A case with balanced chromosome rearrangement involving chromosomes 9, 14, and 13 in a woman with recurrent abortion

Yonsei Med J. 2001 Jun;42(3):345-8. doi: 10.3349/ymj.2001.42.3.345.

Abstract

A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding technique. The husband's karyotype was normal. The wife's karyotype showed a balanced complex chromosome rearrangement (CCR) involving chromosomes 9, 14, and 13. There were three breakpoints: 9p21.2, 14q21, and 13q12.2. The karyotype was designated as 46, XX, t (9;14;13)(p21.2;q21;q12.2). Fluorescence in situ hybridization (FISH) analysis with chromosome-specific libraries of chromosomes 9, 14, and 13 was performed to confirm this rare chromosome rearrangement. The result of FISH coincided with that obtained by standard cytogenetic techniques.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 9*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Pregnancy