Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Caterina Cancrini, Pamela Puliafito, Maria Cristina Digilio, Annarosa Soresina, Silvana Martino, Roberto Rondelli, Rita Consolini, Ezia Maria Ruga, Fabio Cardinale, Andrea Finocchi, Maria Luisa Romiti, Baldassarre Martire, Rosa Bacchetta, Veronica Albano, Adriano Carotti, Fernando Specchia, Davide Montin, Emilia Cirillo, Guido Cocchi, Antonino TrizzinoGrazia Bossi, Ornella Milanesi, Chiara Azzari, Giovanni Corsello, Claudio Pignata, Alessandro Aiuti, Maria Cristina Pietrogrande, Bruno Marino, Alberto Giovanni Ugazio, Alessandro Plebani, Paolo Rossi

Research output: Contribution to journalArticlepeer-review


Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P =.015) and speech disorders (P =.002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Original languageEnglish
JournalJournal of Pediatrics
Issue number6
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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