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KMID : 0358420140570030244
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Korean Journal of Obstetrics and Gynecology
2014 Volume.57 No. 3 p.244 ~ p.247
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The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia
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Cho Jae-Hyun
Kim Chung-Hoon
Lee Kyung-Hee
Jeon Il-Kyung
Kim Jae-Min
Kang Byung-Moon
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Abstract
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Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for CTLN1 in day 3 embryos using polymerase chain reaction was performed for live birth of healthy baby who is no affected with CTLN1. One unaffected blastocyst was transferred. This resulted in a clinical pregnancy and the live birth of healthy male twin. They were confirmed to be unaffected with CTNL1 by post natal diagnosis. This is the first case report of the use of PGD for CTNL1.
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KEYWORD
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Citrullinemia, Preimplantation diagnosis
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