A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH)
Journal of the Korean Pediatric Society
; : 438-443, 2000.
Article
in Ko
| WPRIM
| ID: wpr-130126
Responsible library:
WPRO
ABSTRACT
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Key words
Full text:
1
Index:
WPRIM
Main subject:
Arm
/
Chromosomes, Human, Pair 4
/
Diagnosis
/
Wolf-Hirschhorn Syndrome
/
Hypertelorism
/
Lip
/
Intellectual Disability
Type of study:
Diagnostic_studies
Limits:
Child
/
Female
/
Humans
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
2000
Type:
Article