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KMID : 0367419970400030408
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Journal of Korean Pediatric Society
1997 Volume.40 No. 3 p.408 ~ p.413
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A Case of Dup(3q) Syndrome
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반요섭
최미연/이영아/정우갑/이근영/오숙경
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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
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KEYWORD
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DuP(30) syndrome, Multiple congenital anomalies
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