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KMID : 1101620190300040254
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Perinatology
2019 Volume.30 No. 4 p.254 ~ p.259
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Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
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Gang Mi-Hyeon
Lee Yong-Wook
Lim Han-Hyuk
Chang Mea-Young
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Abstract
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Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome resulting from malsegregation of a balanced translocation of maternal origin, with a comprehensive literature review.
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KEYWORD
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Chromosome 12, 12p, Chromosome duplication, Trisomy 12p
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