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Table 4 Age of achievement for milestones

From: The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Milestones

Total terminal deletions

Deletions < 7.1 Mb

Deletions > 7.1 Mb

Milestone achieved

Not able to perform milestone

Milestone achieved

Not able to perform milestone

Milestone achieved

Not able to perform milestone

Roll over (weeks)

n = 30 9 (2–28)

n = 2 27.5 (25–30)

n = 9 8 (4–10)*

n = 1 25

n = 21 10 (2–28)*

n = 1 30

Sit up unaided (months)

n = 29 13 (7–40)

n = 5 10 (6–28)

n = 11 11 (7–18)*

n = 2 8 (6–10)

n = 18 15 (9–40)*

n = 3 15 (7–28)

Pull up in a standing position (months)

n = 24 16.5 (9–72)

n = 10 15 (6–57)

n = 6 12.5 (9–18)*

n = 4 11 (6–16)

n = 18 18 (11–72)*

n = 6 17 (7–57)

Walking unsupported (months)

n = 28 22.5 (14–57)

n = 17 19 (6–393)

n = 12 18 (14–30)

n = 5 12 (6–16)

n = 16 23.5 (15–57)

n = 12 30.5 (7–393)

Speak first words (months)

n = 25 14 (9–60)

n = 11 15 (6–86)

n = 6 15.5 (10–30)

n = 6 14 (6–44)

n = 19 13 (9–60)

n = 5 15 (7–86)

Speak two-word sentences (months)

n = 19 30 (18–72)

n = 16 19.5 (6–86)

n = 6 24 (20–45)

n = 6 14 (6–44)

n = 13 36 (18–72)

n = 10 24 (7–86)

Fully toilet trained during the day (years)

n = 10 4.5 (3–10)

n = 27 3.5 (0.5–32)

n = 3 4 (3–4)

n = 7 3.5 (0.5–8)

n = 7 5 (4–10)

n = 20 4 (0.5–32)

  1. For each milestone the number of individuals who achieved the milestone and the median and range of their ages of achievement are given. The number of individuals who were not able to perform the milestone is also given and the median and range of the age at which they could not yet perform the milestone. Deletions smaller than 7.1 Mb include subgroups T-PSMB1, T-DLL1, T-AFDN and T-PDE10A, deletions larger than 7.1 Mb include subgroups T-QKI, T-PRKN, T-MAP3K4 and T-
  2. *Significant (p < 0.05) difference between the age of achievement for smaller (< 7.1 Mb) and larger (> 7.1 Mb) terminal deletions