All issues > Volume 37(7); 1994

Case Report

J Korean Pediatr Soc. 1994;37(7):1006-1010. Published online July 15, 1994.

A Case of Partial Trisomy of 3p(Trisomy of 3p23)

Seo Jeong SJ Kim¹, In Kyu IK Kim¹, Kyu Hyoung KH Lee¹, Sook Hwan SH Lee², Kyoung Sub KS Cha², Sun Ja SJ Park³

¹Department of Pediatrics, CHA women`s hospital, Seoul, Korea
<sup>2</sup>Department of OBGY, CHA women`s hospital, Seoul, Korea
³Department of Genetics Research Lab., CHA women`s hospital, Seoul, Korea

Abstract

Partial Trisomy of 3p(Trisomy of 3p2, dup(3)(p23→pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This syndrome shows multiple congenital anomalies with severe mental retardation, characteristic craniofacial change and absence of other gross external abnormalities. The craniofacial dysmorphism includes frontal bossing and temporal indentation, square face, marked hypertelorism, thick and short nose, full lips and a large mouth with downturned corners. Congenital heart defect, most frequently ASD and VSD, are found in most patients. In the majority of patients, the 3p2 duplication is the unbalanced product of a parental autosomal translocation involving 3p2 and another chromosome. We report a case of female baby who has facial dysmorphism, ASD and hyptonia and was found to have 3p2 duplidation(46XX-9, +der(9) t (3:9)(p23:p24)) by chromosomal analysis. Also we found her father was a carrier of blanced translocation of 3p2 and chromosome 9p(46XY, t(3:9)(p23:p24)).

Keywords :Trisomy of 3p2, Duplication of (3)(p23→pter)