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 | + |