지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 16 - 21 (6page)
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초록· 키워드
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A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.
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참고문헌 (17)
참고문헌 신청
Frints SG / 2001 / Xp22.3;Yq11.2 chromosome translocation and its clinical manifestations / Ann Genet 44:71~76
Cameron IT / 1984 / X-Y translocation. A case report / Hum Genet 67:457~459
Delon B / 1997 / Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea / Mol Hum Reprod 3:439~443
Oberlé I / 1991 / Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome / Science 252:1097~1102
Yachelevich N / 2011 / Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series / Am J Med Genet A 155A:870~874
Cameron IT / 1984 / X-Y translocation. A case report / Hum Genet 67:457~459
Delon B / 1997 / Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea / Mol Hum Reprod 3:439~443
Oberlé I / 1991 / Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome / Science 252:1097~1102
Yachelevich N / 2011 / Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series / Am J Med Genet A 155A:870~874
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