Warning: fopen(/home/virtual/pediatrics/journal/upload/ip_log/ip_log_2024-02.txt) [function.fopen]: failed to open stream: Permission denied in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 82

Warning: fwrite(): supplied argument is not a valid stream resource in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 83
A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization(FISH)

Journal of the Korean Pediatric Society 2000;43(3):438-443.
Published online March 15, 2000.
A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization(FISH)
Eun Sil Dong1, Mee Jeong Kim1, Young Min Ahn1, Myoung Sook Koo2, Hwan Keuk Yong3, Anna Lee4
1Department of Pediatrics, Kangnam General Hospital Public Co., Seoul, Korea
2Department of Clinical Pathology, Kangnam General Hospital Public Co., Seoul, Korea
3Children`s Municipal Hospital, Seoul, Korea
4Seoul Clinical Labaratories, Seoul, Korea
형광동소보합결합법에 의해 확진된 장기 생존 Wolf-Hirschhorn Syndrome 1례
동은실1, 김미정1, 안영민1, 구명숙2, 용환극3, 이안나4
1지방공사 강남병원 소아과
2지방공사 강남병원 임상병리과
3시립아동병원
4서울임상병리검사센터
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: Wolf-Hirschhorn Syndrome, FISH, Chromosome 4p


METRICS Graph View
  • 2,432 View
  • 37 Download