Chromosome 22q11 deletion syndrome: the first three cases reported in Thailand.

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dc.contributor.authorRuangdaraganon, Nen_US
dc.contributor.authorTocharoentanaphol, Cen_US
dc.contributor.authorKhowsathit, Pen_US
dc.contributor.authorSombuntham, Ten_US
dc.contributor.authorPongpanich, Ben_US
dc.date.accessioned2009-05-27T19:41:16Z
dc.date.available2009-05-27T19:41:16Z
dc.date.issued1999-11-24en_US
dc.descriptionChotmaihet Thangphaet.en_US
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.en_US
dc.description.affiliationDepartment of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.en_US
dc.identifier.citationRuangdaraganon N, Tocharoentanaphol C, Khowsathit P, Sombuntham T, Pongpanich B. Chromosome 22q11 deletion syndrome: the first three cases reported in Thailand. Journal of the Medical Association of Thailand. 1999 Nov; 82 Suppl 1(): S179-85en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/41600
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshChilden_US
dc.subject.meshChromosomes, Human, Pair 22en_US
dc.subject.meshDevelopmental Disabilities --geneticsen_US
dc.subject.meshFaciesen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Deletionen_US
dc.subject.meshHeart Defects, Congenital --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshMental Retardation --geneticsen_US
dc.subject.meshSyndromeen_US
dc.subject.meshThailanden_US
dc.titleChromosome 22q11 deletion syndrome: the first three cases reported in Thailand.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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