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Table 1 CdC and Trisomy 5p features noted in patients with terminal deletion and inverted duplication of 5p

From: A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

 

Sreekantaiahet al. 1999[8]

Wanget al. 2008[13]

Vetroet al. 2008[14]

Vera-Carbonellet al. 2009[15]

Moscaet al. 2011[16]

Izzoet al. 2012[17]

Our patient 2013

 

Deletion

5p15.33p15.3

5p15.33p15.31

5p15.33p14.1

5p15.33p14.2

5p15.33p15.3

5p15.33

5p15.33p15.31

Deletion

Size

9.9 Mb

6.9 Mb

25 Mb

24.34 Mb

6.6 Mb

870 kb

6.3 Mb

Size

Duplication/inversion

5p15.3p14

5p15.31p14.3

5p14.1p11

5p14.2p13.1 with duplication to 5p12

5p15.31

5p15.33p13.1

5p15.31p13.2

Duplication/inversion

Size

10 Mb

13 Mb

20.3 Mb

20.72 Mb

2.3 Mb

40.5 Mb

29.7 Mb

Size

Heredity

De novo

De novo

De novo

De novo

De novo

de novo

De novo

Heredity

Age of the patient

4 years

6 years

prenatal

Newborn

Prenatal

Prenatal

Newborn

Age of the patient

Gender

F

M

M

F

M

 

F

Gender

Pregnancy/Birth

Normal

Premature

Termination

39 weeks

Termination

Termination

Premature

Pregnancy/Birth

Trisomy 5p features

       

Cri-du-chat features

Head

       

Head

Dolichocephaly

  

+

   

+

 

Macrocephaly

      

+

 

Hypertelorism

  

hypo-

+

+

 

+

Hypertelorism

Microretrognathia

  

+

+

+

 

+

Microretrognathia

Ears

       

Ears

Low-set ears

  

+

+

 

+

+

Low-set ears

  

+

    

+

Preauricular skin tags

Dysplastic ears

  

+

 

+ (left)

 

+ (left)

 

Nose

       

Nose

Broad nasal bridge

   

+

  

+

Broad nasal bridge

Eyes

       

Eyes

Epicanthal folds

      

+

Epicanthal folds

Strabismus

+

     

+

 

Heart

       

Heart

CHD

  

+

+

  

+

CHD

Neurological

       

Neurological

Developmental delay

+

+

    

+

Developmental delay

Hypotonia

 

+

 

+

  

+

Hypotonia

Cry

       

Cry

 

+

  

+

  

+

High-pitched cry

Others

       

Others

Feeding problems

   

+

  

+

 

Failure to thrive

 

+

 

+

  

+

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