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Table 1 Clinical features of individuals with int22h1/int22h2 -mediated Xq28 duplication

From: Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

  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      
  1. M: male, F: female, EA/TEF: esophageal atresia with tracheoesophageal fistula, ASD: atrial septal defect.
  2. *Atopic diseases include asthma, allergic rhinitis, and eczema.