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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