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KMID : 0375219950100010059
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Journal of Il Sin Christian Hospital
1995 Volume.10 No. 1 p.59 ~ p.64
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A Case of Wolf-Hirschhorn Syndrome Associated with ring 4 Chromosome
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양수연
김옥영/정옥승/서손상/최원영
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Abstract
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The 4P- syndrome results from structural deciency of chromosome 4. It was discriminated form 'cri du chat' (5P- syndrome) for no kitten like cry, characteristic mid-line cranial defect.
Until 1975, about 40 cases of 4P- syndrome were reported.
We experienced a patient of 4P-syndrome associated with a Ring 4 chromosome who had all features of already described Wolf syndrom, i. e., microcephaly, prominent glabella, hypertelorism, broad beak-like nose, cleft palate, short philtrum, low
set
ear,
wrist and ankle joint flexion deformity, absent of thumb and right ulna, urethrovaginal fistula.
Chromosomal study showed 46, XX, del, (4) +r(4P16).
A brief review of the literatures was also presented.
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KEYWORD
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