Yonsei Med J.  2001 Jun;42(3):345-348. 10.3349/ymj.2001.42.3.345.

A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion

Affiliations
  • 1Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea. skkim@yumc.yonsei.ac.kr
  • 2Department of Clinical Genetics, Ajou University School of Medicine, Suwon, Korea.

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.

Keyword

Balanced complex chromosome rearrangement; fluorescence in situ hybridization
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