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KMID : 0858120020150010077
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Journal of Reproductive Medicine and Population
2002 Volume.15 No. 1 p.77 ~ p.85
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Three Cases of Rare Inversion of Chromosome 5, 9 and 13 in Couples with Recurrent Abortion
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설혜원/Seol HW
오선경/천대우/김석현/최영민/문신용/Oh SK/Chun DW/Kim SH/Choi YM/Moon SY
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Abstract
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Since the advent of new banding technique, diverse chromosome variants have been detected as well as subtle structual rearrangements and inversion. The risk of abnormal pregnancy outcome in a inversion carrier is a consequence of the formation of gametes with partial duplication and partial deletion, which in turn result from a crossover occurring within the inverted segment during meiosis. These chromosome variants have been found in increased frequency in association with reproductive failure. In a couple with experience of five fetal losses, a maternal pericentric inversion of chromosome 5 (46,XX,inv(5)(p15;q11)) was ascertained through conventional cytogenetic analysis and fluorescent in situ hybridization (FISH) with LSI Cri-du-Chat(5p15.2) probe (VYSIS, USA). A paternal pericentric inversion of chromosome 9 (46,XY,inv(9)(p24q12)) was analyzed with TelVysion 9p probe in a couple with two fetal losses. And in a couple with three fetal losses, a maternal paracentric inversion of chromosome 13 (46,XX,inv(13)(q13q22)) was confirmed with LSI 13(13q14) probe. Therefore couple who had experienced repetitive fetal losses have to be examined parental chromosomal analysis and genetic counseling such as prenatal diagnosis should also be considered in subsequent pregnancy.
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