Table 1 Characteristics of the cohorts

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

 

DD #1 (N = 10,235)

DD #2 (N = 8841)

Adult carrier screening (N = 14,249)

Newborn screening (N = 1997)

Age range (years)

0–17

0–18

17–57

Newborn

% female

23.3%

24.5%

100%

49%

No family history (n)a

10,184

8,786

14,228

N/A

Indicated family history (n)b

51

55

21

N/A

  1. DD, developmental delay; N, number of individuals in cohort; n, sample number; N/A, not available.
  2. aDD clinical notes and adult carrier screening test request forms do not document knowledge of an FMR1 expansion in a blood relation.
  3. bIndicate an FMR1 expansion in a blood relation.
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