Please use this identifier to cite or link to this item: https://ir.swu.ac.th/jspui/handle/123456789/15305
ชื่อเรื่อง: Chromosome 22q11 deletion syndrome : The first three cases reported in Thailand
ผู้แต่ง: Ruangdaraganon N.
Tocharoentanaphol C.
Khowsathit P.
Sombuntham T.
Pongpanich B.
Keywords: article
case report
child
chromosome 22
congenital heart malformation
developmental disorder
facies
female
fluorescence in situ hybridization
gene deletion
genetics
human
mental deficiency
syndrome
Thailand
Child
Chromosomes, Human, Pair 22
Developmental Disabilities
Facies
Female
Gene Deletion
Heart Defects, Congenital
Humans
In Situ Hybridization, Fluorescence
Mental Retardation
Syndrome
Thailand
วันที่เผยแพร่: 1999
บทคัดย่อ: The DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes were originally described as separate disorders due to different concerns regarding phenotypes. However, all these disorders have some common clinical manifestations, including congenital heart defect, facial anomaly, and developmental delay. It is now clear that most cases of these syndromes have a common cause resulting from microdeletion of chromosome 22q11. This study reports the first three cases of Thai children presented with developmental delays. All are females who were known cases of congenital heart diseases. Their minor facial anomalies were subtle and not previously recognized as of any syndromes. The chromosome study by fluorescent in situ hybridization technique yielded microdeletion of chromosome 22q11. Without known prevalence in Asian populations, except in Japanese children, further study for chromosome 22q11 deletion syndrome in Asian children with conotruncal heart defects, who also have minor facial anomalies or developmental delays, should be undertaken.
URI: https://ir.swu.ac.th/jspui/handle/123456789/15305
https://www.scopus.com/inward/record.uri?eid=2-s2.0-28144434359&partnerID=40&md5=dcda1c54a73dbfd72bf71aeae3d71ff5
ISSN: 1252208
Appears in Collections:Scopus 1983-2021

Files in This Item:
There are no files associated with this item.


Items in SWU repository are protected by copyright, with all rights reserved, unless otherwise indicated.