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Sook Kyoung Oh (Oh SK)

1 Article

Case Report

A Case of Dup(3q) Syndrome

Yo Seop Pahn, Mi Yeon Choi, Young Ah Lee, Woo Kap Chung, Keun Young Lee, Sook Kyoung Oh

Clin Exp Pediatr. 1997;40(3):408-412. Published online March 15, 1997

We have experienced a case of dup(3q) syndrome in the neonate who had a multiple congenital anomalies of hypertrichosis, hypertelorism, upslanting palpaberal fissures, anteverted nostrils, long philtrum, micrognathia, downturned corners of the mouth, highly arched palate, short, webbed neck, clinodactyly, rocker-bottom feet, dermal sinus. Cytogenetic studies showed a duplication 3q21→qter regions. Chromosome study of relatives is extremely important for counseling because...

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