Mongkol Lao-araya, Thailand
Faculty of Medicine, Chiang Mai University PediatricsPresenter of 1 Presentation
22Q11 DELETION SYNDROME IN NORTHERN THAILAND
Abstract
Background and Aims
22q11 deletion syndrome is one of the most prevalent microdeletion syndromes in humans and characterized by extensive phenotypic variability.
Methods
Patients who were diagnosed with 22q11 deletion syndrome, confirmed by fluorescent in situ hybridization (FISH) analysis at Chiang Mai University Hospital, Chiang Mai, Thailand, were enrolled. The data obtained from the history, physical examination, laboratory testing including T-cells, immunoglobulin, calcium, thyroid and parathyroid levels in the blood, cardiac and urological imaging, and intellectual status were evaluated.
Results
We identified 34 patients diagnosed with 22q11 deletion syndrome; 18 (53%) were females. The median age of patients was 18.5 months (IQR; 1.5-35.8). Characteristic facial features were found in 91% of the patients. Moreover, 94% had a congenital heart defect with tetralogy of Fallot in most of the patients (72%), 88% had hypocalcemia, 35% had genitourinary tract abnormalities. Malnutrition was revealed in 83% of patients. Recurrence in the family of the 22q11.2 deletion syndrome was detected in 12% of the cases. Twenty-eight patients (82%) were found to have a low percentage or number of T-cells. Five patients (15%) had low immunoglobulin levels. Intellectual disability (IQ/DQ scores < 70) were found in 20 out of 25 patients who were evaluated (80%), whereas the other five (20%) performed on the level of borderline intellectual function.
Conclusions
Tetralogy of Fallot, hypocalcemia, immunologic defect, and cognitive impairment were common in our 22q11 deletion syndrome study group. We recommend that all affected patients have a multi-system evaluation by a comprehensive care team.