title: A case with balanced chromosome rearrangement involving chromosomes 9, 14, and 13 in a woman with recurrent abortion.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea. skkim@yumc.yonsei.ac.kr
authors.forename: S K
authors.initials: SK
authors.lastname: Kim
authors.forename: H J
authors.initials: HJ
authors.lastname: Kim
authors.forename: Y H
authors.initials: YH
authors.lastname: Yang
authors.forename: I K
authors.initials: IK
authors.lastname: Kim
authors.forename: S W
authors.initials: SW
authors.lastname: Bai
authors.forename: J Y
authors.initials: JY
authors.lastname: Kim
authors.forename: K H
authors.initials: KH
authors.lastname: Park
authors.forename: D J
authors.initials: DJ
authors.lastname: Cho
authors.forename: C H
authors.initials: CH
authors.lastname: Song
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy