The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
作者： DONNA M. McDONALD-McGINN , DON LaROSSA , ELIZABETH GOLDMUNTZ , KATHLEEN SULLIVAN , PEGGY EICHER
关键词: Genetic testing 、 Extremely variable phenotype 、 DiGeorge syndrome 、 Cardiofacial syndrome 、 Cohort 、 Pediatrics 、 Cohort study 、 Medicine
摘要: A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority patients with DiGeorge syndrome, velocardiofacial conotruncal anomaly face and some isolated cardiac anomalies, Opitz G/BBB Cayler cardiofacial syndrome. We have evaluated 181 this deletion. describe our cohort patients, how they presented, what learned by having same subspecialists evaluate all children. The results help define extremely variable phenotype associated will assist clinicians formulating a management plan based on these findings.
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