A Case of Trisomy 12p Due to Paternal 12;18 Translocation, t(12:18)(p12.1:p11.31).
- Author:
Ji Ung KANG
1
;
Kyong Yon PARK
;
O Kyung LEE
Author Information
1. Department of Pediatrics, Presbyterian Medical Center, Chonju, Korea. okleepmc@netian.com
- Publication Type:Case Report
- Keywords:
Trisomy 12p;
Neonate
- MeSH:
Amniocentesis;
Anal Canal;
Chorionic Villi Sampling;
Ear;
Female;
Forehead;
Genes, vif;
Genetic Counseling;
Hirschsprung Disease;
Humans;
Infant, Newborn;
Lip;
Mothers;
Neck;
Parents;
Pregnancy;
Trisomy*
- From:Journal of the Korean Society of Neonatology
2006;13(1):154-159
- CountryRepublic of Korea
- Language:Korean
-
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.
