Table 1 Characteristics commonly found in patients with mosaic trisomy of chromosome 22

Feature frequency/ patient(%)

50

42

30

26

26

24

22

22

26

18

18

Facial dysmorphia

x

x

x

x

x

x

x

x

x

x

x

11

100

Developmental delay/ growth retardation

x

x

x

x

x

x

x

x

x

9

82

Cardiac abnormalities

x

x

x

x

x

x

x

x

8

73

Flat nasal bridge

x

x

x

x

x

x

x

7

64

Ear abnormalities

x

x

x

x

x

x

6

55

Body/facial asymmetry

x

x

x

x

x

x

6

55

Intrauterine growth retardation

x

x

x

x

x

5

45

Epicanthus

x

x

x

x

x

5

45

Hypertelorism

x

x

x

x

x

5

45

Hypotonia (variable)

x

x

x

x

x

5

45

Low set ear

x

x

x

x

x

5

45

Spots on the skin

x

x

x

x

x

5

45

Dysplastic/hypoplastic nails

x

x

x

x

x

5

45

Genital abnormalities

x

x

x

x

4

36

Ears with posterior rotation

x

x

x

x

4

36

Body/member/face hypoplasia

x

x

x

3

27

Cleft palate

x

x

x

3

27

Prominent forehead

x

x

x

3

27

Microcephaly

x

x

x

3

27

Micrognathia/retrognathia

x

x

x

3

27

Webbed neck

x

x

x

3

27

Ptosis

x

x

x

3

27

Congenital brain abnormalities

x

x

2

18

Anterior ectopic anus

x

x

2

18

Scoliosis/kyphosis

x

x

2

18

Clinodactyly

x

x

2

18

Intellectual disability

x

x

2

18

Down-slanting palpebral fissures

x

x

2

18

Squint

x

x

2

18

Hearing loss

x

x

2

18

Hydronephrosis

x

x

2

18

Joint hypermobility

x

x

2

18

Hypothyroidism

x

x

2

18

Thin lips

x

x

2

18

Myopia

x

x

2

18

Anteverted nares

x

x

2

18

Insect sting allergy

x

1

9

Asthma

x

1

9

Downward turning of the mouth

x

1

9

Bronchitis

x

1

9

Tapering fingers

x

1

9

Long soft philtrum

x

1

9

Hemangioma

x

1

9

Velopharyngeal insufficiency

x

1

9

Lactose intolerance

x

1

9

Prominent eye

x

1

9

Thick laryngeal wall

x

1

9

Gastroesophageal reflux

x

1

9

Syndactyly between 2nd and 3rd

x

1

9