Table 3 CGG size in PM males and females

From: FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

  

DD #2

  

Newborn screening

  

Adult carrier screening

  
 

n

Median

IQR

n

Median

IQR

n

Median

IQR

p

CGG repeat (M and F)

21

57

11

10

59.5

6

44 a

61

12

0.3419

CGG repeat (M)

10

57.5

23

2

59.5

9

-

-

-

0.5192

CGG repeat (F)

11

57

11

8

59.5

5.5

44

61

12

0.3658

  1. There were two PMs with a mosaic result for CGG size within the PM range (CGG: 73–85; CGG: 76,157). The analyses above used the mean value for each PM mosaic. Repeat of the analyses using the lowest and highest alleles did not change the results (male and females combined: p = 0.3419; females: p = 0.3658 to 0.3744); males: p = 0.5192.
  2. DD, developmental delay; F, females; IQR, interquartile range; M, males; PM, premutation.
  3. aAlthough there were no males in the adult carrier screening cohort, these data are presented twice to allow comparisons across the cohorts that include females. Data in this table do not exclude samples with indicated knowledge of an FMR1 expansion in a blood relation.
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