A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion.
10.3349/ymj.2001.42.3.345
- Author:
Sei Kwang KIM
1
;
Hyon Ju KIM
;
Young Ho YANG
;
In Kyu KIM
;
Sang Wook BAI
;
Jeong Yeon KIM
;
Ki Hyun PARK
;
Dong Jae CHO
;
Chan Ho SONG
Author Information
1. Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea. skkim@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Balanced complex chromosome rearrangement;
fluorescence in situ hybridization
- MeSH:
Abortion, Habitual/*genetics;
Adult;
Case Report;
*Chromosome Aberrations;
*Chromosomes, Human, Pair 13;
*Chromosomes, Human, Pair 14;
*Chromosomes, Human, Pair 9;
Female;
Human;
In Situ Hybridization, Fluorescence;
Pregnancy
- From:Yonsei Medical Journal
2001;42(3):345-348
- CountryRepublic of Korea
- Language:English
-
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.
