Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

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...

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Veröffentlicht in:	The Journal of pediatrics 2014-06, Vol.164 (6), p.1475-1480.e2
Hauptverfasser:	Cancrini, Caterina, MD, PhD, Puliafito, Pamela, MD, Digilio, Maria Cristina, MD, Soresina, Annarosa, MD, Martino, Silvana, MD, Rondelli, Roberto, MD, Consolini, Rita, MD, Ruga, Ezia Maria, MD, Cardinale, Fabio, MD, Finocchi, Andrea, MD, PhD, Romiti, Maria Luisa, BSc, PhD, Martire, Baldassarre, MD, Bacchetta, Rosa, MD, Albano, Veronica, MD, Carotti, Adriano, MD, Specchia, Fernando, MD, Montin, Davide, MD, Cirillo, Emilia, MD, Cocchi, Guido, MD, Trizzino, Antonino, MD, Bossi, Grazia, MD, Milanesi, Ornella, MD, Azzari, Chiara, MD, PhD, Corsello, Giovanni, MD, Pignata, Claudio, MD, PhD, Aiuti, Alessandro, MD, PhD, Pietrogrande, Maria Cristina, MD, Marino, Bruno, MD, Ugazio, Alberto Giovanni, MD, Plebani, Alessandro, MD, PhD, Rossi, Paolo, MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - epidemiology Adolescent Adult Age Factors Child Child, Preschool Chromosomes, Human, Pair 22 - genetics Delayed Diagnosis Developmental Disabilities - diagnosis Developmental Disabilities - epidemiology DiGeorge Syndrome - diagnosis DiGeorge Syndrome - genetics DiGeorge Syndrome - therapy Disease Progression Early Diagnosis Female Follow-Up Studies Genetic Testing Humans Infant Infant, Newborn Male Monitoring, Physiologic - methods Pediatrics Prospective Studies Retrospective Studies Risk Assessment Severity of Illness Index Sex Factors Time Factors Young Adult
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