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Evaluating the results of the Momguard noninvasive prenatal test

Hu HJ, Kwon YJ, Oh M, Kim J, Cho DY, Seo DH

PURPOSE: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. MATERIALS AND METHODS: This preliminary study is...
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A Case of Trisomy 13q and Monosomy 17p Due to an Adjacent-2 Segregation of Maternal Reciprocal Translocation

Lee JH, Kim KH, Kim DL, Kim MH, Choi YY, Juhng SW, Choi C

  • KMID: 2172407
  • Chonnam Med J.
  • 2001 Dec;37(4):415-419.
We report a boy with a trisomy of chromosome 13q and monosomy of chromosome 17p due to an adjacent segregation-2 of maternal reciprocal translocation. At age of one month and...
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A Case of Patau Syndrome Diagnosed in Early Pregnancy

Shin DY, Kim KT, Hwang YY, Hong EK, Kim DH

  • KMID: 2261852
  • Korean J Obstet Gynecol.
  • 2000 Feb;43(2):330-333.
Patau syndrome, or Trisomy 13 is one of the most common autosomal aberration associtated with multiple congenital abnormalities. We report a case with trisomy 13 mosacism which was found during...
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A Case of Cyclopia Associated with Trisomy 13

Seok JH, Chung SW, Son SK, Lee RR, Lee DH, Kang IK, Kim IS

  • KMID: 2269767
  • Korean J Obstet Gynecol.
  • 1999 Aug;42(8):1839-1843.
Cyclopia is rare congenital craniofacial anomaly, in which the eyes are fused together and located in a single orbit. It is consistently associated with severe holoprosencephaly, which is the failure...
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A Case of Combined Partial Monosomy 5p / Trisomy 13q Associated with Sonographic Abnormalities

Cho SJ, Jung SW, An WS, Kim KJ, Park MH, Hwang IT

  • KMID: 2269625
  • Korean J Obstet Gynecol.
  • 1999 May;42(5):1134-1137.
We report here a case of partial monosomy of the short arm of chromosome 5 combined with partial trisomy 13q due to reciprocal maternal translocation t[5;13]. The newborn demonstrated...
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A Case of Acute Undifferentiated Leukemia with Trisomy 13

Kim EJ, Jeon DS, Kim JR, Choi GJ, Ha JS, Kwon KY

  • KMID: 1534102
  • Korean J Hematol.
  • 1999 Feb;34(1):148-152.
The diagnosis of acute undifferentiated leukemia is made when the leukemic cells cannot be classified using morphologic and cytochemical analyses, and do not express myeloid or lymphoid antigens. Trisomy 13...
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