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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/25551
Title: Chromosome 22q11 deletion syndrome : The first three cases reported in Thailand
Authors: Nichara Ruangdaraganon
Chintana Tocharoentanaphol
Pongsak Khowsathit
Tasanawat Sombuntham
Boonchob Pongpanich
Mahidol University
Srinakharinwirot University
Keywords: Medicine
Issue Date: 1-Dec-1999
Citation: Journal of the Medical Association of Thailand. Vol.82, No.SUPPL. (1999)
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.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=28144434359&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/25551
ISSN: 01252208
Appears in Collections:Scopus 1991-2000

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