Skip to main content

Table 3 Patient characteristics

From: The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Patient ID a

Ageb/sex

SBDS mutations

1

6/M

c.183_184delTAinsCT/c.258 + 2 T > C

2

4/M

c.258 + 2 T > C/c.258 + 2 T > C

3

20/F

c.183_184delTAinsCT/c.258 + 2 T > C

4

5/M

c.183_184delTAinsCT/c.258 + 2 T > C

5

11/M

c.170 T > C/258 + 2 T > C

6

14/M

c.258 + 2 T > C/c.258 + 2 T > C

7

29/M

c.183_184delTAinsCT/c.258 + 2 T > C

8

16/M

c.183_184delTAinsCT/c.258 + 2 T > C

9

11, 19/M

c.183_184delTAinsCT + 258 + 2 T > C/258 + 2 T > C

10

13, 16/F

c.183_184delTAinsCT/c.258 + 2 T > C

11

15/F

c.183_184delTAinsCT/c.258 + 2 T > C

12

M

c.183_184delTAinsCT/c.258 + 2 T > C

13

13, 14/M

c.183_184delTAinsCT + 258 + 2 T > C/c.258 + 2 T > C

14

3, 5/M

c.183_184delTAinsCT + 258 + 2 T > C/c.258 + 2 T > C

  1. aPatients 1–8 from the cohort of the North American Shwachman-Diamond Syndrome Registry (SDSR); patients 9–14 from the cohort of the Registro Italiano per la Sindrome di Shwachman-Diamond (RI-SDS)
  2. bAge (years) at time or times of BM sampling
Back to article page

Molecular Cytogenetics

ISSN: 1755-8166