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Table 1 Comparison of present patient phenotype with that of previously described “pure” 3q24q29 duplications (modified by Grossmann et al., 2009 [2])

From: New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

Clinical manifestations

dup 3q24-q26.31, n = 1, Meins et al. 2005 [14]

Dup 3q25-29, n = 2, Wilson et al., 1978 [15]

Dup 3q29, n = 8, Ballif et al. 2008, Lisi et al. 2008 [16, 17]

Dup 3q26.3, n = 2, Azar et al. 1999 [18], Faas et al. 2002 [13]

Dup3q25-qter, n = 11, ECARUCA [19]

Dup3q27-qter, n = 6, ECARUCA [19]

Dup3q27.1-q29(Present patient)

Growth retardation

       

Prenatal

  

2/5

 

1/1

2/2

 

Postnatal

  

2/5

1/ 2

   

Overgrowth

      

+

Microcephaly

1/1

2/2

5/8

 

4/11

  

Macrocephaly

  

1/8

   

+

Dysmorphic facial features

       

Low frontal hairline

 

2/2

1/8

1/ 2

2/11

 

 + 

High frontal hairline

   

2/2

  

 + 

Bushy eyebrows

   

5/11

  

 + 

Hypertelorism

    

4/11

3/6

 + 

Downslanting palpebral fissures

1/1

 

3/8

1/2

5/11

1/6

 + 

Epicanthus

1/1

   

4/11

3/6

 + 

Wide nasal bridge

 

1/2

4/8

2/2

6/11

2/6

 + 

Bulbous nasal tip

1/1

2/2

 

2/2

9/11

 

 + 

Prominent philtrum

1/1

  

1/2

5/11

 

 + 

Large or downturned corners of the mouth

1/1

1/2

3/8

1/2

6/11

 

 + 

Low-set dysplastic ears

1/1

  

1/2

4/11

4/6

 + 

Hirsutism

 

2/2

 

1/2

7/11

1/6

 

Hands and feet abnormalities

       

Brachydactyly

      

 + 

V finger clinodactyly

 

2/2

  

5/11

1/6

+

Heart defects

1/1

 

1/8

1/2

1/11

 

 + 

Urogenital anomalies

    

2/11

1/6

 + 

Developmental delay

1/1

2/2

6/8

2/2

5/11

4/6

 + (mild motor delay)

  1.  +  = present