Difference of clinical phenotypes and immunological features of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries.
J Med Assoc Thai
; 97 Suppl 10: S59-66, 2014 Oct.
Article
in En
| MEDLINE
| ID: mdl-25816539
ABSTRACT
BACKGROUND:
22q11.2 deletion syndrome is a common microdeletion syndrome that affected various systems.OBJECTIVE:
To determine clinical phenotypes and immunologicalfeatures of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries. MATERIAL ANDMETHOD:
The authors described the clinical and immunological features in 20 north-eastern Thai children with 22q11.2 deletion syndrome that were followed-up at Srinagarind Hospital.RESULT:
Clinical phenotypes were facial dysmorphism (100%), congenital heart disease (80%) and cleft palate (30%). Prevalence of tetralogy of Fallot (TOF) in this syndrome was higher than in western. Serious infections were found including pneumonia, septicemia and brain abscess. Only a patient had panhypogammaglobulinemia and subsequently died. Selective IgA deficiency was not found. There was a twin patient conceivedfrom intracytoplasmic sperm injection (ICSI).CONCLUSION:
TOF is more common in Asian patients than in western which different to selective IgA deficiency. The 22q11.2 deletion syndrome could be consequence from ICSI.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
DiGeorge Syndrome
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Country/Region as subject:
Asia
Language:
En
Journal:
J Med Assoc Thai
Year:
2014
Document type:
Article