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Table 1 WBS patients with atypical microdeletion in 7q11.23 and their clinical characteristics

From: Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

Case no

Sex

Age (month)

Gene tests

Deletion

Growth retardation

Cardiovascular diseases

Mental disability

Inguinal hernias

Endocrine abnormalities

Typical face

Range (hg19)

Size

1

M

38

CMA

Del (7q11.23)

(72,858,312–74,071,135) × 1

1.213 Mb

+

+

+

+

+

2

F

24

CMA

Del (7q11.23)

(72,351,682–74,264,871) × 1

1.91 Mb

+

+

+

3

M

27

CMA

Del (7q11.23)

(72,858,305–74,071,087) × 1

1.212 Mb

+

+

+

+

4

M

31

CMA

Del (7q11.23)

(72,745,738–74,129,824) × 1

1.384 Mb

+

+

+

+

5

F

11

CMA

Del (7q11.23)

(72,800,000–74,150,000) × 1

1.35 Mb

+

+

+

+

+

6

M

32

CMA

Del (7q11.23)

(72,742,276–73,483,030) × 1

0.741 Mb

+

+

+

+

+

7

M

31

CMA

Del (7q11.23)

(73,150,001–74,200,000) × 1

1.05 Mb

+

+

+

8

M

13

CMA

Del (7q11.23)

(72,751,184–74,100,813) × 1

1.35 Mb

+

+

+

+

+

9

M

13

CMA

Del (7q11.23)

(72,073,782–76,132,541) × 1

4.06 Mb

+

+

Howald et al. [13]

M

36

PSQ

NR

NR

+

+

NR

+

Tassabehji et al. [30]

F

92

FISH

NR

NR

+

+

+

NR

+

Gagliardi et al. [31]

M

66

FISH

NR

NR

+

+

+

NR

NR

+

Korenberg et al. [32]

M

24

FISH

NR

NR

+

+

+

NR

+

  1. CMA chromosomal microarray analysis, WBS Williams–Beuren syndrome, PSQ paralogous sequence quantification, FISH fluorescent in situ hybridization, NR not reported, Present (+) and not present (−)