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Table 2 Clinical features of patients with tetrasomy of region 22q11.2

From: Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Features Yobb et al. 2005 Bi et al. 2012 Vaz et al. 2015 This study (case 23)
22q11.2 region 4 copies (3/1) 4 copies (2/2) 4 copies (3/1) 4 copies (2/2)
Age at last evaluation 8 years 29 mounts 20 years 11 years
Gender Female Male Female Male
Heart defect + +
Velopharyngeal insufficiency +
Hearing impairment + + +
Failure to thrive +
Sleep apnea N/D +
Urogenital abnormalities N/D +
Cognitive deficits + + + +
Psychiatric disorders N/D +
Behavioural problems + N/A
Headache N/D +
Recurrent infections +
Hand/foot abnormality + +
Dysmorphic and other features Epicanthal folds, Broad nasal bridge, Left ear pit, Secondary hearing impairment Left preauricular pit, Plagiocephaly, Facial asymmetry, Teeth abnormality, Hypoplastic iris and corectopia Long narrow face, Epicanthal folds, Hypertelorism, Downslanting palpebral fissures, Prominent nose, Long philtrum, Dental cavities, Retrognathia, Round face, Hypertelorism, Downslanting palpebral fissures Broad nasal bridge, Long philtrum, Overfolded helix, Hypoplasia of clivus