Table 4.

Breakdown of abnormal microarray data by group

	CMA Group (N = 257)	CMA/Karyotype Group (N = 156)
Detectable by karyotype	177	112
Aneuploidy	124	89
Non‐mosaic	115	79
Mosaic	6	9
Aneuploidy + deletion	2	0
Aneuploidy + ROH	1	1
Deletion and duplication	15a	7
>1 copy number variant	2	1
Deletions	16	6
Duplications	12	6
Mosaic duplication	2	1 b
Mosaic triplication	0	1b
Triploidy	8	1
Complex structural abnormality	0	1
Possibly/partially detectable by karyotype	10	1
Deletion and duplication	6c	1 (mosaic)
Duplication	1	0
Two duplications	1	0
Duplication + triplication	1	0
Mosaic deletion + mosaic aneuploidy	1	0
Not detectable by karyotype	70	43
Microdeletions	49	20
Syndromic	29	12
Non‐syndromic	20	8
Microduplications	9	13
Syndromic	3	2
Non‐syndromic	6	11
Mosaic aneuploidy + mosaic microdeletion	0	1e
Microdeletion and microduplication	8	6
Microdeletion and triplication	1	0
>1 copy number variant	2d	1
Single ROH	1	0
UPD	1	1
Complex structural abnormality	0	1

^aAll had karyotype/FISH that detected a structural abnormality.

^bKaryotype performed.

^c5/6 had karyotype performed that partially detected the abnormality and required array to clarify (ie, marker chromosomes, unknown bands involved); 1/6 was mosaic.

^dOne is mosaic.

^eNormal karyotype.