| A Case of Dup(3q) Syndrome |
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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 |
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반요섭3, 최미연3, 이영아3, 정우갑3, 이근영2, 오숙경1 |
1한림대학교 의과대학 유전학검사실
2한림대학교 의과대학 산부인과학교실
3한림대학교 의과대학 소아과학교실 |
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| Abstract |
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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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