Publication: Chromosome 22q11 deletion syndrome : The first three cases reported in Thailand
10
Issued Date
1999-12-01
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ISSN
01252208
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2-s2.0-28144434359
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.82, No.SUPPL. (1999)
Suggested Citation
Nichara Ruangdaraganon, Chintana Tocharoentanaphol, Pongsak Khowsathit, Tasanawat Sombuntham, Boonchob Pongpanich Chromosome 22q11 deletion syndrome : The first three cases reported in Thailand. Journal of the Medical Association of Thailand. Vol.82, No.SUPPL. (1999). Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/25551
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Title
Chromosome 22q11 deletion syndrome : The first three cases reported in Thailand
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Abstract
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.