Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

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 co...

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Veröffentlicht in:Perinatology (Online) 2019, 30(4), , pp.254-259
Hauptverfasser: Gang, Mi Hyeon, Lee, Yong Wook, Lim, Han Hyuk, Chang, Mea-young
Format: Artikel
Sprache:eng
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의학일반
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Zusammenfassung: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. KCI Citation Count: 0
ISSN:2508-4887
2508-4895
DOI:10.14734/PN.2019.30.4.254