A Case of de novo Interstitial Deletion of 17 Chromosome.
- Author:
Kyung Hee YOON
1
;
Hee Cheol LEE
;
Ai Rhan KIM
;
Ki Soo KIM
;
Soo Young PI
;
Eul Ju SEO
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
De novo interstitial deletion;
Chromosome 17
- MeSH:
Arm;
Chromosomes, Human, Pair 17;
Cryptorchidism;
Ear;
Follow-Up Studies;
Hearing Loss, Bilateral;
Humans;
Hypertelorism;
Infant;
Karyotype;
Male;
Microcephaly;
Outpatients;
Parents;
Thumb
- From:Journal of the Korean Pediatric Society
2001;44(4):475-479
- CountryRepublic of Korea
- Language:Korean
-
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).
