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

Mi Hyeon Gang, Yong Wook Lee, Han Hyuk Lim, Mea-young Chang
2019 Perinatology  
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.
doi:10.14734/pn.2019.30.4.254 fatcat:exv3r5znbbevhox7lqp5zrprhy