Publication: Chromosome 22q11 deletion syndrome : The first three cases reported in Thailand
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0
Issued Date
1999
Resource Type
File Type
application/pdf
ISSN
1252208
Other identifier(s)
2-s2.0-28144434359
Rights Holder(s)
มหาวิทยาลัยศรีนครินทรวิโรฒ
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol 82, No.SUPPL. (1999), p.S183-S184
Suggested Citation
Ruangdaraganon 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. Vol 82, No.SUPPL. (1999), p.S183-S184. Retrieved from: https://hdl.handle.net/20.500.14740/7080
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.
Subject(s)
Article
Case report
Child
Chromosome 22
Congenital heart malformation
Developmental disorder
Facies
Female
Fluorescence in situ hybridization
Gene deletion
Genetics
Human
Mental deficiency
Syndrome
Thailand
Child
Chromosomes, Human, Pair 22
Developmental Disabilities
Facies
Female
Gene Deletion
Heart Defects, Congenital
Humans
In Situ Hybridization, Fluorescence
Mental Retardation
Syndrome
Thailand
Case report
Child
Chromosome 22
Congenital heart malformation
Developmental disorder
Facies
Female
Fluorescence in situ hybridization
Gene deletion
Genetics
Human
Mental deficiency
Syndrome
Thailand
Child
Chromosomes, Human, Pair 22
Developmental Disabilities
Facies
Female
Gene Deletion
Heart Defects, Congenital
Humans
In Situ Hybridization, Fluorescence
Mental Retardation
Syndrome
Thailand