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Table 3 Overview of clinical features of patients with a 22q13 to qter duplication

From: SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

  Petek et al. Biesecker et al. Schinzel Feenstra et al. Our Patient Feenstra et al. Feenstra et al. Okamoto et al. Peeters et al. Failla et al.
    (patient 1)   (patient 2) (patient 3) (patient 1)   
Duplicated region q13-qter q13.2-qter q13.2-qter q13.2-qter q13.2-qter q13.3-qter q13.3-qter q13.3-qter q13.3-qter q13.3-qter
Duplication cause der(19)t(19p;22q)dn   der(6)t(6;22)mat der(21)t(21p;22q) der(22)t(22p;22q)dn der(21)t(21p;22q)pat der(21)t(21p;22q)dn der(22)t(22p;22q)dn der(22)t(22p;22q)dn  
Sex M F F F F M M F F F
Psychomotor retardation + + + + mild moderate mild moderate mild Moderate Disorganized schizophrenia
Stature (height) −2.5 S.D. 0 S.D. Short stature −4 S.D. 0 S.D. −3 S.D −3 S.D −3.2 SD 0 SD  
Hypotonia   +   + + +
Head           
Microcephaly + + + + + + + + + +
Brain abnormalities   +  
Sparse, fine hair +    + + +    
Prominent forehead     + + + + +  
Hypertelorism + + + + + + +
Palpebral fissures slant up    + +    
Narrow palpebral fissures     +   + +  
Epicanthic folds +    + +    
Wide nasal bridge     + + + +  
Low set ears + + + + +  
Dysplastic ears    +  
Hearing loss   +  
Long philtrum     +    
Prominent upper lip     + + +   
Prominent lower lip     +   
Cleft lip   +      
Cleft palate   + + +  
Thorax, abdomen and genitalia           
Renal malformations +    +  
Genital malformation +    
Limbs           
Dysplastic hip     + +    
Slender fingers          
Clinodactyly fifth finger     +      
Club foot, varus         
Survival Alive, 9 years Alive, 9 years Alive, 8.5 years Alive, 5 years Alive, 15 years Alive, 2 years Alive, 40 years Alive, 4 years Alive, 6.8 years Alive, 20 years