Table 1 Clinical features of individuals with int22h1/int22h2 -mediated Xq28 duplication
El-Hattab et al. 2011 (Ref [ 7 ] ) | Lannoy et al. 2013 (Ref [ 8 ] ) | Vanmarsenille et al. 2014 (Ref [ 9 ] ) | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Total N = 26 | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
4 M | 3 M | 1 M | 1 F | 4 M | 2 F | Proband M | Mother | Older brother | Younger brother | Mother | Proband M | Proband M | Youngest sister | Middle sister | Oldest sister | Mother | 14 M | 12 F | ||
Cognitive impairment | 4/4 | 3/3 | 1/1 | - | 4/4 | 1/2 | + | + | + | + | - | + | + | - | + | - | - | 14/14 | 6/12 | |
Facial features | High forehead | 4/4 | 1/3 | 1/1 | - | 2/4 | - | + | - | + | - | - | - | - | + | + | + | + | 9/14 | 5/12 |
Long face | 1/4 | - | 1/1 | - | 1/4 | - | - | - | - | - | - | - | - | - | - | - | + | 3/14 | 1/12 | |
Sparse eyebrows | 1/4 | 1/3 | - | - | - | - | + | - | - | - | - | - | - | - | - | - | - | 2/14 | 1/12 | |
Long eyelashes | - | - | - | - | - | - | + | - | - | - | - | - | + | - | - | - | - | 2/14 | - | |
Upper eyelid fullness | 4/4 | - | 1/1 | - | - | - | + | - | - | - | - | + | + | + | + | + | + | 8/14 | 4/12 | |
Deep seated eyes | 2/4 | - | - | - | 1/4 | - | - | + | - | - | - | - | - | - | - | - | - | 3/14 | 1/12 | |
Broad nasal bridge | 3/4 | 1/3 | 1/1 | - | - | - | + | - | + | + | - | - | - | + | + | - | - | 7/14 | 3/12 | |
Anteverted nares | - | - | 1/1 | - | 1/4 | - | + | - | - | - | - | - | - | - | - | - | - | 3/14 | - | |
Thin upper lip | - | - | 1/1 | - | 1/4 | - | - | - | - | - | - | - | - | - | - | - | - | 2/14 | - | |
Thick lower lip | 3/4 | 1/3 | - | - | - | - | - | + | - | + | - | + | - | + | + | + | + | 5/14 | 6/12 | |
Micro/retrognathia | 2/4 | - | 1/1 | - | - | - | - | - | - | - | - | - | - | - | - | - | - | 3/14 | - | |
Long philtrum | - | - | 1/1 | - | 1/4 | - | + | - | - | - | - | - | - | - | - | - | - | 3/14 | - | |
Large ears | - | - | 1/1 | - | 2/4 | - | - | - | - | - | - | - | - | - | - | - | - | 3/14 | - | |
Simple helices | 1/4 | - | - | - | 1/4 | - | - | - | - | - | - | - | - | - | - | - | - | 2/14 | - | |
Tall stature | 1/4 | - | - | - | 1/4 | - | - | - | - | - | - | + | - | - | - | - | - | 3/14 | - | |
Obesity | 2/4 | 1/3 | - | - | 2/4 | - | - | - | - | - | - | - | - | - | - | - | - | 4/14 | 1/12 | |
Behavioral problems | 3/4 | - | - | - | 3/4 | - | - | - | + | + | - | - | + | - | + | - | - | 9/14 | 1/12 | |
Recurrent infections | 4/4 | - | - | - | 1/4 | - | + | - | + | + | - | + | + | - | - | - | - | 10/14 | - | |
Atopic diseases* | 2/4 | - | - | - | 1/4 | - | - | - | + | - | - | + | + | - | - | - | - | 6/14 | - | |
Congenital malformations | Pierre Robin | EA/TEF | Cardiac valvular disease | ASD | hemihyper-plasia | |||||||||||||||