J Korean Pediatr Soc.
1997 Mar;40(3):408-412.
A Case of Dup (3q) Syndrome
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.
- 2Department of OB&GY, College of Medicine, Hallym University, Seoul, Korea.
- 3Center of Genetics, College of Medicine, Hallym University, Seoul, Korea.
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.
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