46, XY, t(12;18)(p12.1;p11.31)로 균형 전좌인 아버지에서 유래한 12번 염색체 단완의 삼체성(trisomy 12p) 1례
A Case of Trisomy 12p Due to Paternal 12;18 Translocation, t(12;18)(p12.1:p11.31)
강지웅, 박경연, 이오경,
소속 상세정보
강지웅 ( Kang Ji-Ung )
전주예수병원 소아과
박경연 ( Park kyong-Yon )
전주예수병원 소아과
이오경 ( Lee O-Kyung )
전주예수병원 소아과
KMID : 0438520060130010154
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. (J Korean Soc Neonatol 2006;13:154-159)
키워드
Trisomy 12p;Neonate
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