Patient
|
Karyotype
|
Turner stigmata
|
1 | 46,X,del(X)(p11.2) |
Webbed neck, short metaparcals, high arched palate |
2 | 46,X,del(X)(p11.21) |
Equivocal webbed neck, nail dysplasia, high arched palate, cubitus valgus, pigmented naevi |
3 | 46,X,del(X)(p21) | None |
4 | 46,X,der(X)t(X;2)(p11.22;p11.2) |
Webbed neck, nail dysplasia,low hairline, puffy hands/feet, high arched palate, cubitus valgus, shield chest, low set ears |
5 | 46,X,der(X)t(X;Y)(p11.2/p11.4;q12/q11.2) |
Nail dysplasia, low hairline, cubitus valgus |
6 | 46,X,del(X)(p11.3) |
Equivocal webbed neck, high arched palate, cubitus valgus, pigmented naevi |
7 | 46,X,del(X)(p11.23) | Cubitus valgus, mild Madelung deformity, shield chest, pigmented naevi |
8 | 46,X,del(X)(p11.21) | None |
9 | 46,X,del(X)(p11.4) | Cubitus valgus, short metacarpals |