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Journal of the Korean Society of Neonatology 2006;13(1):154-159.
Published online May 1, 2006.
A Case of Trisomy 12p Due to Paternal 12;18 Translocation, t(12:18)(p12.1:p11.31).
Ji Ung Kang, Kyong Yon Park, O Kyung Lee
Department of Pediatrics, Presbyterian Medical Center, Chonju, Korea. okleepmc@netian.com
46, XY, t(12;18)(p12.1;p11.31)로 균형 전좌인 아버지에서 유래한 12번 염색체 단완의 삼체성(trisomy 12p) 1례
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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.
Key Words: Trisomy 12p; Neonate


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