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Sun Ja Park (Park SJ)

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Case Report

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

Seo Jeong Kim, In Kyu Kim, Kyu Hyoung Lee, Sook Hwan Lee, Kyoung Sub Cha, Sun Ja Park

Clin Exp Pediatr. 1994;37(7):1006-1010. Published online July 15, 1994

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...

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