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A Case of Dup(3q) Syndrome

Journal of the Korean Pediatric Society 1997;40(3):408-412.
Published online March 15, 1997.
A Case of Dup(3q) Syndrome
Yo Seop Pahn3, Mi Yeon Choi3, Young Ah Lee3, Woo Kap Chung3, Keun Young Lee2, Sook Kyoung Oh1
1Center of Genetic, College of Medicine, Hallym University, Seoul, Korea
2Department of OB&GY, College of Medicine, Hallym University, Seoul, Korea
3Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea
Dup(3q)증후군 1례
반요섭3, 최미연3, 이영아3, 정우갑3, 이근영2, 오숙경1
1한림대학교 의과대학 유전학검사실
2한림대학교 의과대학 산부인과학교실
3한림대학교 의과대학 소아과학교실
Abstract
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 only 25% of cases represented de novo duplications. We reported the case with the review of the associated literatures
Key Words: Dup(3q)syndrome, Multiple congenital anomalie


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