- Case Report
- A Case of de novo Interstitial Deletion of 17 Chromosome
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Kyung Hee Yoon, Hee Cheol Lee, Ai Rhan Kim, Ki Soo Kim, Soo Young Pi, Eul Ju Seo, Han Wook Yoo
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Clin Exp Pediatr. 2001;44(4):475-479. Published online April 15, 2001
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This is the first reported case of a unique interstitial deletion involving the long arm of chromosome 17 in a Korean male infant born to parents with normal karyotype. The patient presented with multiple congenital malformations suggestive of chromosomal anomaly including round face, upslanted palpebral fissure, hypertelorism, posteriorly rotated low set ear, micrognathia, microcephaly, finger- like thumb, bilateral hearing loss,... |
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