- Case Report
- A Case of Klippel-Trenaunay Syndrome Combinded with Sturge-Weber Syndrome
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Mi Young Kim, So Young Lee, Na Yeon Kim, Sun Ju Lee, Won Duck Kim, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
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Clin Exp Pediatr. 2003;46(9):909-912. Published online September 15, 2003
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Klippel-Trenaunay syndrome is a rare mesodermal phakomatosis characterized by cutaneous haemangiomata(usually unilateral and involving an extremity), venous varicosities and osseous and soft tissue hypertrophy, of the affected limb. Sturge-Weber syndrome, also a mesodermal pharkomatosis, is characterized by a port-wine nevus, which is present from birth and covers the face and cranium in the territory of the first division of the... |
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- Case Report
- A Case of Partial Inverted Duplication of Chromosome 7q
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Hyun Ji Kim, So Young Lee, Mi Young Kim, Chung Sun Baek, Won Duck Kim, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
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Clin Exp Pediatr. 2003;46(5):510-513. Published online May 15, 2003
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Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long... |
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