| A Case of de novo Interstitial Deletion of 17 Chromosome |
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Kyung Hee Yoon1, Hee Cheol Lee1, Ai Rhan Kim1, Ki Soo Kim1, Soo Young Pi1, Eul Ju Seo2, Han Wook Yoo2 |
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 |
| 17번 염색체 장완 결손 증후군 1례 |
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윤경희1, 이희철1, 김애란1, 김기수1, 피수영1, 서을주2, 유한욱2 |
1울산대학교 의과대학 서울중앙병원 소아과학교실
2울산대학교 의과대학 서울중앙병원 의학유전학교실 |
Correspondence:
Ai Rhan Kim, Email: arkim@www.amc.seoul.kr
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| Abstract |
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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, 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). |
| Key Words:
De novo interstitial deletion, Chromosome 17 |
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