The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome

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Objectives: 22q11.2 Deletion Syndrome (22q11.2 DS) is an immunodeficiency disorder characterized by a abroad spectrum of clinical phenotypes, including facial dysmorphism, congenital heart and palate malformations , immune deficiencies, endocrine abnormalities, hypocalcemia as well as neurodevelopmental disorders. We aim to describe the clinical phenotypes and follow-up of a Chinese pediatric cohort with 22q11.2 DS. Methods: A retrospective study was conducted on patients diagnosed with 22q11.2 DS from August 2008 to October 2025. The clinical, immunological, neurological and follow-up data were collected from electronic medical records. Diagnosis was confirmed using fluorescence in situ hybridization (FISH), multilink probe amplification technique (MLPA), array comparative genomic hybridization (aCGH) or whole-exome sequencing (WES). Results : The general clinical manifestations of 51 patients included:(1) Facial dysmorphism (31.4%, 16/51); Palatopharyngeal malformations (21.6%, 11/51) ; Congenital heart disease (76.5%, 39/51); Endocrine abnormalities (45.1%, 23/51). (2) Immune characteristics: The incidence of recurrent infections was 31.4% (16/51); Immunomodulatory therapy (thymopentin or IVIG) was administered to 39.2% (20/51) of patients. T-cell deficiency (30/51), associated with thymic hypoplasia or aplasia (23.5%, 12/51). (3) Central nervous system characteristics: Neurological abnormalities (58.8%, 30/51), cognitive and developmental delay, epilepsy, and hypocalcemic seizures were the most common. Intelligence testing (25.5%, 13/51) revealed subnormal scores in all cases. Neuroimaging (89.7%, 35/39) commonly showed subdural hemorrhage and cerebral dysgenesis. (4) Follow-up data: As for 45 patients, T-cell immunodeficiency was in 26.7% (12/45) and ongoing immunomodulatory therapy was in 15.6% (7/45). The rate of neurodevelopmental abnormalities increased to 71.1% (32/45), learning difficulties being most common. Conclusion: We found congenital heart disease combined with facial deformity should be vigilantly of 22q11.2 DS and carried out genetic testing. Systematic follow-up and monitoring of immune function and neurodevelopmental abnormalities are beneficial for improving the prognosis of the children.

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