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Int J Med Sci 2023; 20(11):1377-1385. doi:10.7150/ijms.86773 This issue Cite

Research Paper

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients

Chung-Lin Lee1,2,3,4,5, Shan-Miao Lin1, Ming-Ren Chen1, Chih-Kuang Chuang6,7, Huei-Ching Chiu1, Yuan-Rong Tu6, Yun-Ting Lo3, Ya-Hui Chang1,3, Hsiang-Yu Lin1,3,4,5,6,8✉, Shuan-Pei Lin1,3,4,6,9✉

1. Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
2. Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan.
3. Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.
4. Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
5. Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.
6. Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
7. College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.
8. Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.
9. Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
Chung-Lin Lee and Shan-Miao Lin contributed equally to this study.

✉ Corresponding authors: Hsiang-Yu Lin and Shuan-Pei Lin, Department of Pediatrics, MacKay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei 10449, Taiwan. Tel: +886-2-2543-3535 (ext. 3089); Fax: +886-2-2543-3642; Email: lxc46199h More

Citation:
Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP. 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients. Int J Med Sci 2023; 20(11):1377-1385. doi:10.7150/ijms.86773. https://www.medsci.org/v20p1377.htm
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Abstract

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Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. This study aimed to investigate the clinical features, immune profiles, and cognitive abilities of 22q11.2DS patients receiving treatment at MacKay Memorial Hospital in Taipei, Taiwan.

Methods: This is a cross-sectional analysis between January 2001 and December 2022. We recruited 27 patients with 22q11.2DS using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). Our evaluation included patient history, physical examination, laboratory analysis, and cardiac and cognitive assessment.

Results: We included 27 patients with 22q11.2DS, 7 (25.9%) of whom were female. The median age of the patients was 17.9 yr. Ninety-three percent of the patients exhibited the characteristic facial features associated with the syndrome. A family history of 22q11.2DS was found in 11.1% of the patients. Furthermore, 74.1% of the patients had a congenital heart defect, the most common of which was tetralogy of Fallot (40.7%). Hypocalcemia was observed in 40.7% of the patients. A low T-cell count was observed in 66.7% of the patients, whereas 18.5% had low immunoglobulin levels. Cognitive assessments revealed that four out of six evaluated patients (66.7%) had an intellectual disability, as evidenced by intellectual quotient scores less than 70. The remaining two patients (33.3%) had a borderline intellectual function.

Conclusion: Tetralogy of Fallot, hypocalcemia, immunologic defects, and cognitive impairment were common among our patients. To address the potential multisystem involvement, we recommend that all affected individuals undergo a comprehensive evaluation by a multidisciplinary care team.

Keywords: 22q11.2 deletion syndrome, congenital heart disease, intellectual disability, T-cell defect, Taiwan

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APA
Lee, C.L., Lin, S.M., Chen, M.R., Chuang, C.K., Chiu, H.C., Tu, Y.R., Lo, Y.T., Chang, Y.H., Lin, H.Y., Lin, S.P. (2023). 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients. International Journal of Medical Sciences, 20(11), 1377-1385. https://doi.org/10.7150/ijms.86773.

ACS
Lee, C.L.; Lin, S.M.; Chen, M.R.; Chuang, C.K.; Chiu, H.C.; Tu, Y.R.; Lo, Y.T.; Chang, Y.H.; Lin, H.Y.; Lin, S.P. 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients. Int. J. Med. Sci. 2023, 20 (11), 1377-1385. DOI: 10.7150/ijms.86773.

NLM
Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP. 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients. Int J Med Sci 2023; 20(11):1377-1385. doi:10.7150/ijms.86773. https://www.medsci.org/v20p1377.htm

CSE
Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP. 2023. 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients. Int J Med Sci. 20(11):1377-1385.

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