| A Case of Partial Trisomy of 3p(Trisomy of 3p23) |
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Seo Jeong Kim1, In Kyu Kim1, Kyu Hyoung Lee1, Sook Hwan Lee2, Kyoung Sub Cha2, Sun Ja Park3 |
1Department of Pediatrics, CHA women`s hospital, Seoul, Korea
2Department of OBGY, CHA women`s hospital, Seoul, Korea
3Department of Genetics Research Lab., CHA women`s hospital, Seoul, Korea |
| 아버지의 균형 전좌에서 유래된 Trisomy 3p2 |
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김서정1, 김인규1, 이규형1, 이숙환2, 차경섭2, 박선자3 |
1차병원 소아과
2차병원 산부인과
3차병원 유전학 연구소 |
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| Abstract |
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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)). |
| Key Words:
Trisomy of 3p2, Duplication of (3)(p23→pter) |
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