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KMID : 0390320080180010376
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Chungbuk Medical Journal
2008 Volume.18 No. 1 p.376 ~ p.381
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Inheritance of Maternal 13/14 Robertsonian Translocation Found by Down Syndrome Screening
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Jeong Eun-Hwan
Ji Il-Woon
Hong Seung-Hwa
Park Yeon-Jin
Kim Hak-Soon
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Abstract
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We found a case of fetal t(13;14) Robertsonian translocation by conventional karyotyping with amniocytes which was obtained by amniocentesis at twentieth week of gestation from a woman of early thirties, whose Down syndrome screening test at eighteenth week of gestation using triple markers showed a high risk of Edward syndrome. Conventional cytogenetic results using peripheral leukocytes of the couple confirmed that fetal chromosomal abnormality was balanced translocation originated from the carrier mother. This case shows that Down syndrome screening test using triple markers can detect fetal Robertsonian translocation, and we report this case with review of literatures.
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KEYWORD
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Down Syndrome Screening, Triple marker test, t(13, 14) Robertsonian translocation
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