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Table 2 Clinical findings, MLPA and Affymetrix SNP array 6.0 results in 24 patients underwent array assay

From: Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

Patient

ID

MLPA

Affymetrix human SNP 6.0 Array

Clinical findings

  

Gain/loss

Chromo-some band

Start (Mb)

End (Mb)

Size (Mb)

Number of genes

Gender

Age

Seizure

Autistic feature

Dysmorphism or other congenital abnormalities

Micro-

cephaly

Low birth weight

Growth delay

Family history

1472

1pter-

loss

1p36.33-p36.32

0.83

3.12

2.29

74

F

7 y

10 m

/

/

hirsutism, hypertelorims, clinodactyly

/

+

/

/

1115

4pter-

loss

4p16.3-p16.1

0.057

9.83

9.77

138

M

6 m

/

/

Greek warrior helmet appearance of the nose, cleft lip/palate, polymicrogyria, thin corpus callosum

+

+

/

/

1483

4pter-

loss

4p16.3-p16.2

0.057

3.38

3.32

58

F

9 m

/

/

Greek warrior helmet appearance of the nose, micrognathia, high-arched palate,

dermatoglyphic anomalies

+

+

+

/

1834

4pter-

loss

4p16.3-p16.1

0.057

9.82

9.77

138

F

1 y

3 m

+

/

Greek warrior helmet appearance of the nose, micrognathia, prominent ear, cleft palate, calcification of kidneys, hepatic hemangioma, CHD, dysplasia of atlas

+

+

+

/

1980

4pter-

loss

4p16.3-p16.2

0.056

4.12

4.07

67

F

1 y

2 m

+

/

Greek warrior helmet appearance of the nose, high-arched palate, prominent ear

+

+

+

+

1971

7qter-

loss

7q36.3

157.29

158.82

1.53

7

F

2 y

1 m

/

/

low hair line, hypertelorism, ptosis, prominent ears, hand anomalies

+

/

/

/

339

8pter-

loss

8p23.3

0.021

2.067

2.05

28

F

1 y

/

/

hypertelorism, long philtrum, malformed ears

+

/

/

/

1467

9pter-

loss

9p24.3

0.67

1.54

0.87

5

F

2 y

11 m

/

/

/

+

/

/

/

2268

9pter-

loss

9p24.3-24.1

0.19

7.01

6.82

48

M

3 y

/

/

flat nasal bridge, prominent ears, dermatoglyphic anomalies

/

/

/

/

419

11qter-

loss

11q25

130.33

134.45

4.12

20

M

7 m

/

/

long philtrum, low set ears, micrognathia, thin upper lip, V-shaped mouth

/

+

/

/

1591

11qter -

loss

11q23.3-q25

119.98

132.81

12.82

143

F

2 y

5 m

/

/

light hair color, Hypertelorism, high-arched palate, dermatoglyphic anomalies, CHD

/

/

/

/

1309

15qter-

loss

15q26.2-q26.3

92.79

100.29

7.50

48

M

11 m

/

/

flat nasal bridge, small palpebral fissure, hypertelorism, dermatoglyphic anomalies, clinodactyly, inguinal hernia, polycytic kidney

/

+

/

+

2689

16pter-

loss

16p13.3

0.00077

1.28

1.28

69

F

6 y

/

/

high-arched palate, hypertelorism, prominent ears, thin corpus callosum

/

/

/

/

2498

22qter-

loss

22q13.32-13.33

47.43

49.41

1.97

41

F

3 y

/

/

/

/

+

/

/

1038

3qter+

gain

3q29

194.37

199.38

5.01

67

M

5 y

10 m

+

/

hirsutism, prominent ears, dermatoglyphic anomalies, CHD, cryptorchidism

+

/

/

/

1518

3qter+

/

/

/

/

/

/

M

5 y

11 m

+

+

hirsutism, prominent ears, sparse teeth

/

/

/

/

1729

22qter+

gain

22q13.33

49.32

49.58

0.26

7

F

7 m

/

/

flat nasal bridge, small palpebral fissure, prominent ears, dermatoglyphic anomalies, CHD

+

/

+

/

1704

14qter-

loss

14q32.33

104.53

105.21

0.68

24

M

4 y

6 m

+

/

/

/

/

/

/

 

17qter-

/

/

/

/

/

/

         

390

13pter-

/

/

/

/

/

/

M

1 y

/

/

thin corpus callosum

+

/

/

/

 

22qter-

loss

22q13.31-q13.33

46.90

49.58

2.68

46

         

337

2pter-

loss

2p25.3

0.0028

2.02

2.01

19

F

8 m

/

/

hypertelorism, flat nasal bridge

/

/

/

/

 

4pter+

gain

4p16.3

0.15

1.19

1.04

24

         

1947

10pter-

loss

10p15.3-15.1

0.062

6.22

6.16

48

M

9 m

/

/

hypertelorism, flat nasal bridge, micrognathia, CHD

+

/

/

+

 

6qter+

gain

6q27

165.60

166.43

0.82

6

         

1711

8pter-

loss

8p23.3

0.16

1.91

1.75

17

M

4 y

10 m

/

/

long philtrum

+

/

/

/

 

7pter+

gain

7p22.3

0.26

1.81

1.55

28

         

2126

6pter-

loss

6p25.3

0.33

2.95

2.63

20

M

3 y

3 m

/

/

thin corpus callosum

/

/

/

+

 

8pter+

gain

8p23.3

0.021

0.58

0.56

7

         

2026

7pter-

loss

7p22.3

0.26

2.01

1.76

23

F

1 y

7 m

/

/

ptosis, long philtrum, downturned corners of the mouth

/

/

/

/

 

12pter+

gain

12p13.33-13.2

0.021

11.07

11.05

202

         
  1. + = positive, / = negative