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Table 1 Copy number variants encountered in the Northern Swedish family: Aberrations found in the different individuals; several copy number variations were present in all the family members, with no pattern of distribution, and irrespective of their affected status, as compared with a normal population of about 100 individuals from the HapMap project. Aberrations found only once, and in healthy individuals, and aberrations apparently not involved in disease removed were not included.

From: Complex aetiology of an apparently Mendelian form of Mental Retardation

Individual

SEX

State

A

B

C

D

E

F

G

H

I

J

K

301

M

MR

X

   

X

  

X

X

  

302

M

Normal IQ

X

   

X

  

X

X

X

 

303

M

Normal IQ

         

X

 

304

F

MR

       

X

X

X

 

307

M

Normal IQ

   

X

 

X

  

X

  

309

F

Normal IQ

X

X

 

X

 

X

  

X

X

 

322

F

MR

X

      

X

X

X

 

323

F

Normal IQ

   

X

 

X

 

X

X

X

 

324

M

Normal IQ

X

X

 

X

    

X

X

 

310

M

Normal IQ

X

   

X

X

 

X

   

311

M

Normal IQ

X

  

X

X

  

X

 

X

X

330

M

Normal IQ

X

   

X

X

 

X

X

X

 

829

F

MR

X

   

X

X

 

X

X

X

 

830

M

MR

X

       

X

 

X

319

F

MR

X

 

X

  

X

 

X

 

X

 

321

F

Normal IQ

X

 

X

X

 

X

X

X

X

X

 

u1

M

MR

X

     

X

X

 

X

 

u2

M

MR

X

     

X

X

 

X

X

u3

M

MR

X

    

X

 

X

X

X

X

329

M

MR

X

   

X

  

X

 

X

Â