The 22q11.2 duplication syndrome occurs when a duplication occurs in the same region that is deleted in the DiGeorge or Velocardiofacial Syndromes
Mutations may be de novo or inherited in an autosomal dominant manner.
(1) variable intelligence (from normal to learning disability to mental retardation)
(2) variable delay in psychomotor development
(3) variable growth retardation
(4) variable muscular hypotonia
(5) variable dysmorphic facial features whichmay include
(5a) cleft palate or other palatal defect
(5b) velopharyngeal insufficiency
(5e) downslanting palpebral fissures
(5g) epicanthal folds
(5i) dysplasic ears
(5j) broad flat nose
(6) variable cardiac malformations
(7) variable behavioral problems
(8) variable seizures
(9) variable impairments of hearing and/or vision
(10) variable urogenital anomalies
(11) variable anomalies of hands and/or feet
Some patients pass for normal and are only found when family testing is done on an affected relative.
Routine G-band karyotyping is usually negative. Detection requires a molecular technique (such as multiplex ligation-dependent probe amplification or array genomic hybridization.
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