J Korean Pediatr Soc.
2001 Apr;44(4):475-479.
A Case of de novo Interstitial Deletion of 17 Chromosome
- Affiliations
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- 1Department of Pediatrics, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea.
- 2Department of Medical Genetics, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea.
Abstract
- 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, cryptorchidism, and severe developmental delay found upon outpatient follow-ups. A table of comparison is shown in between our case with previously reported 3 cases by Park, et al.(1992), Dallapiccola, et al.(1993), and Khalifa, et al.(1993).
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