J Korean Soc Neonatol.  2006 May;13(1):154-159.

A Case of Trisomy 12p Due to Paternal 12;18 Translocation, t(12:18)(p12.1:p11.31)

• Kang JU
• Park KY
• Lee OK

Abstract

Trisomy 12p is an extremely rare disorder, in fact approximately 30 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(12;18), thus the offspring inherit such a gene. In this report, the father's chromosomal arrangement was 46, XY, t(12;18)(p12.1;p11.31) and the mother had a normal chromosomal arrangement. We identified a neonate with a short- neck, round face, prominent forehead, long philtrum, low-set ears, imperforated anus and congenital megacolon. We then carried out a chromosomal study and diagnosed the trisomy 12p. If one or both parents are known carriers, it is strongly suggested to perform amniocentesis or chorionic villus sampling for every pregnancy and it is also recommended that potential parents receive genetic counseling before any pregnancy.

Keyword

Trisomy 12p; Neonate

MeSH Terms

Amniocentesis
Anal Canal
Chorionic Villi Sampling
Ear
Female
Forehead
Genes, vif
Genetic Counseling
Hirschsprung Disease
Humans
Infant, Newborn
Lip
Mothers
Neck
Parents
Pregnancy
Trisomy*