A Case of de novo Interstitial Deletion of 17 Chromosome
Journal of the Korean Pediatric Society
;
: 475-479, 2001.
Article
in Korean
| WPRIM
| ID: wpr-28405
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).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Outpatients
/
Parents
/
Arm
/
Thumb
/
Chromosomes, Human, Pair 17
/
Follow-Up Studies
/
Cryptorchidism
/
Ear
/
Karyotype
/
Hearing Loss, Bilateral
Type of study:
Observational study
/
Prognostic study
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2001
Type:
Article
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