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KMID : 0311120010420030345
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Yonsei Medical Journal
2001 Volume.42 No. 3 p.345 ~ p.348
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A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion
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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
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Abstract
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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.
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KEYWORD
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Balanced complex chromosome rearrangement, fluorescence in situ hybridization,
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