Table 1.

Sample characteristics (n = 101)

Characteristics		n	%
Sex
Male		54	53.5
Female		47	46.5
Age at CMA
<12 month		26	25.7
1–5 years		37	36.6
6–10 years		15	14.9
>10 years		23	22.8
Phenotype: number of organ systems affected
0–2		7	6.9
3–4		25	24.8
5–6		26	25.7
7–8		22	21.8
9 or more		21	20.8
CMA result
Diagnostic		8	7.9
Non-diagnostic		93	92.1
WGS result (non-diagnostic CMA only, n = 93)
Diagnostic		22	23.7
Non-diagnostic		71	76.3

CMA chromosomal microarray analysis, WGS whole-genome sequencing