Perinatology.  2019 Dec;30(4):254-259. 10.14734/PN.2019.30.4.254.

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

• Gang MH
• Lee YW
• Lim HH
• Chang MY

• KMID: 2468549
• DOI: http://doi.org/10.14734/PN.2019.30.4.254

Abstract

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.

Keyword

Chromosome 12; 12p; Chromosome duplication; Trisomy 12p

MeSH Terms

Chromosome Duplication
Chromosomes, Human, Pair 12
Intellectual Disability
Trisomy*