Skip to main content

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 (−)