Please use this identifier to cite or link to this item: https://ir.swu.ac.th/jspui/handle/123456789/15305
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dc.contributor.authorRuangdaraganon N.
dc.contributor.authorTocharoentanaphol C.
dc.contributor.authorKhowsathit P.
dc.contributor.authorSombuntham T.
dc.contributor.authorPongpanich B.
dc.date.accessioned2021-04-05T04:33:28Z-
dc.date.available2021-04-05T04:33:28Z-
dc.date.issued1999
dc.identifier.issn1252208
dc.identifier.other2-s2.0-28144434359
dc.identifier.urihttps://ir.swu.ac.th/jspui/handle/123456789/15305-
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-28144434359&partnerID=40&md5=dcda1c54a73dbfd72bf71aeae3d71ff5
dc.description.abstractThe 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.
dc.subjectarticle
dc.subjectcase report
dc.subjectchild
dc.subjectchromosome 22
dc.subjectcongenital heart malformation
dc.subjectdevelopmental disorder
dc.subjectfacies
dc.subjectfemale
dc.subjectfluorescence in situ hybridization
dc.subjectgene deletion
dc.subjectgenetics
dc.subjecthuman
dc.subjectmental deficiency
dc.subjectsyndrome
dc.subjectThailand
dc.subjectChild
dc.subjectChromosomes, Human, Pair 22
dc.subjectDevelopmental Disabilities
dc.subjectFacies
dc.subjectFemale
dc.subjectGene Deletion
dc.subjectHeart Defects, Congenital
dc.subjectHumans
dc.subjectIn Situ Hybridization, Fluorescence
dc.subjectMental Retardation
dc.subjectSyndrome
dc.subjectThailand
dc.titleChromosome 22q11 deletion syndrome : The first three cases reported in Thailand
dc.typeArticle
dc.rights.holderScopus
dc.identifier.bibliograpycitationJournal of the Medical Association of Thailand. Vol 82, No.SUPPL. (1999), p.S183-S184
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