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- W4231872049 endingPage "316" @default.
- W4231872049 startingPage "291" @default.
- W4231872049 abstract "The 22q11.2 deletion has been identified in the majority of individuals with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, and in some people with the autosomal dominant Opitz G/BBB syndrome and Cayler Cardiofacial syndrome/asymmetric crying facies syndrome. It is the most common microdeletion syndrome in humans. There is wide phenotypic variability most frequently involving congenital cardiac anomalies, palatal differences, immune deficiency, hypoparathyroidism, renal anomalies, dysphagia, and mild craniofacial differences. However, some individuals with the 22q11.2 deletion have none of these features. Behavioral abnormalities and learning disabilities are common, and psychiatric symptoms are present in a subset. The 22q11.2 deletion most often occurs as a de novo event, but affected individuals have a 50% recurrence risk." @default.
- W4231872049 created "2022-05-12" @default.
- W4231872049 creator A5002180292 @default.
- W4231872049 creator A5007439202 @default.
- W4231872049 creator A5008262289 @default.
- W4231872049 creator A5010242633 @default.
- W4231872049 creator A5042183876 @default.
- W4231872049 date "2020-10-30" @default.
- W4231872049 modified "2023-10-12" @default.
- W4231872049 title "DELETION 22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME)" @default.
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