PPM - 22q11.2 Deletion Syndrome (2024 version)-Description and References

Description and References

Pdf Summary

22q11.2 deletion syndrome, a prevalent microdeletion syndrome, affects approximately 1 in 2,148 live births. This genetic disorder stems from a recurrent heterozygous deletion of about 2.54 Mb on chromosome 22q11.2, impacting around 40 genes, including TBX1. It presents with a diverse range of congenital anomalies and health issues, the most notable being congenital heart defects (especially conotruncal heart malformations), palate abnormalities (such as cleft palate and velopharyngeal insufficiency), hypocalcemia, immunological deficiencies, learning disabilities, and distinct facial features. Diagnosis is facilitated by genetic testing, while treatment focuses on supportive care tailored to individual symptoms.<br /><br />The document aims to guide the evaluation and continuous monitoring of individuals with this syndrome. Management involves a multidisciplinary approach considering the variable manifestation of the syndrome’s symptoms. Recent literature cited includes updated clinical practice recommendations for both adults and children affected by the syndrome, emphasizing a tailored approach to each age group’s specific needs.<br /><br />Key references include updated clinical guidelines published by Boot E. et al. and Óskarsdóttir S. et al. in "Genetic Medicine" (2023), along with the comprehensive review by McDonald-McGinn DM, Hain HS, Emanuel BS, and colleagues in "GeneReviews" (1999, updated 2024). These resources provide healthcare providers with vital information to improve the quality of care and outcomes for individuals with 22q11.2 deletion syndrome.

Keywords

22q11.2 deletion syndrome

microdeletion syndrome

chromosome 22q11.2

congenital heart defects

palate abnormalities

hypocalcemia

immunological deficiencies

learning disabilities

genetic testing

multidisciplinary approach