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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