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

Authors
 Sei Kwang Kim  ;  Hyon Ju Kim  ;  Young Ho Yang  ;  In Kyu Kim  ;  Sang Wook Bai  ;  Jeong Yeon Kim  ;  Ki Hyun Park  ;  Dong Jae Cho  ;  Chan Ho Song 
Citation
 YONSEI MEDICAL JOURNAL, Vol.42(3) : 345-348, 2001 
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
 0513-5796 
Issue Date
2001
MeSH
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
Keywords
balanced complex chromosome rearrangement ; fluorescence in situ hybridization
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.
Files in This Item:
T200101787.pdf Download
DOI
10.3349/ymj.2001.42.3.345
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sei Kwang(김세광)
Bai, Sang Wook(배상욱) ORCID logo https://orcid.org/0000-0001-7724-7552
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142206
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