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KMID : 0361720090200020163
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Korean Journal of perinatology
2009 Volume.20 No. 2 p.163 ~ p.166
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A Case with Partial Monosomy 6q and Partial Trisomy 14q Derived from Maternal Balanced Translocation
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Song Eun-Jeong
Jang Yong-Seok
Park Hye-Jin
Lee Kye-Hyang
Lee Gyeong-Hun
Choi Eun-Jin
Kim Jin-Kyung
Chung Hai-Lee
Seo Eok-Su
Kim Woo-Taek
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Abstract
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There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not been reported around the world. The authors experienced a case of partial monosomy 6q and partial trisomy 14q derived from maternal reciprocal balanced translocation t (6;14) in a neonate with multiple anomalies including intrauterine growth retardation, facial and cardiac anomalies. We report the case with a brief review of associaed lieratures.
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KEYWORD
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Monosomy 6q, Trisomy 14q, Maternal balanced translocation
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