Table 1 Cohort demographic data

From: Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

 

Cohort (n = 60)

 

n

%

Sex (male)

30

50.0

Age

 Birth—2 years

11

18.3

 3–8 years

25

41.7

 9–14 years

20

33.3

 15–21 years

4

6.7

Phenotype

 Neurological presentation

14

23.3

 Pattern of malformation

46

76.7

cWGS analysis type

 Proband-only

1

1.7

 Duo

14

23.3

 Trio

42

70.0

 Quad

3

5.0

Prior genetic testing

 Karyotype

19

31.7

 (+) Single gene testing

(1)

 

 (+) PWS methylation studies

(1)

 

 (+) Chromosomal microarray

(1)

 

 None

41

68.3

Genome day

 1 (Aug 2016)

7

11.7

 2 (Nov 2016)

10

16.7

 3 (Jan 2017)

8

13.3

 4 (June 2017)

8

13.3

 5 (September 2017)

14

23.3

 6 (March 2018)

13

21.7

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