Chromosome 22q11 Deletion Syndrome : The First Three Cases Reported in Thailand
NICHARA RUANGDARAGANON, M.D.*,
PONGSAK KHOWSATHIT, M.D.*,
BOONCHOB PONGPANICH, M.D.*
CHINTANA TOCHAROENTANAPHOL, Ph.D.**,
TASANAWAT SOMBUNTHAM, M.D.*,
Affiliation : * Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok I 0400,
** Department of Pathology, Faculty of Medicine, Srinakharinwirot University, Bangkok I 0300, Thailand.
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 pre-
valence 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.
Keywords : Chromosome 22q11 Deletion Syndrome, Velocardiofacial Syndrome, Conotruncal Heart Defect
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