Table 3.

Characteristics of cases identified by chromosomal microarray (CMA)

ID	Sex	Age of Diagnosis (Years)	Clinical Indication for the Study	CMA Platform	CMA Results (Coordinates)	Size (Mb)	Genetic Diagnosis (OMIM # if Available)	Included OMIM Genes	Origin
19AC29	M	6	Attention deficit, developmental delay, congenital heart disease, and dysmorphic features	60 K	8p23.13.4 (8,100,384–11,860,230)X1	3.76	8p23.1 deletion syndrome	21 genes	Dn
17AC33	M	8	ASD and psychomotor delay	180 K	16p13.3 (5,874,625–6,466,890)X1	0.59		RBFOX1 (exons 1–2)	Pat asym
19AC272	M	13	ASD and psychomotor delay	180 K	2q23.1 (149,135,883–149,154,803)X1	0.020	2q23.1 syndrome or autosomal dominant mental retardation (MIM #156200)	MBD5 (intron 5–6)	n/a
5867	M	0.8	ASD and psychomotor delay	180 K	15q13.2 (30921917–32618383) X1	1.7	Microdeletion 15q13 syndrome (MIM #612001)	7 genes: ARHGAP11A, FAN1, MTMR10, TRPM1, KLF13, 0TUD7A, and CHRNA7	Mat asym
6210	M	5	ASD	180 K	15q11.2 (22759178–23155311) X1	0.4	Microdeletion 15q11 syndrome MIM #615656)	4 genes: TUBGCP5, CYFIP1, NIPA1, and NIPA2	Pat asym
17AC114	M	5	ASD and epilepsy	180 K	15q11.2q13.1 (22,668,852–28,859,449) X3	6.19	Duplication syndrome 15q11–q13 (MIM #608636)	23 genes	Dn
5700	M	7	ASD and dysmorphic features	180 K	1q21.1–q21.2 (144,895,322–149,680,340) X3	4.78	1q21 Duplication syndrome (MIM#612475)	33 genes	Pat asym
6356	F	10	Intellectual disability, ASD, and dysmorphic features	180 K	22q11.21 (18,729,744-21,705,113) X1	2.98	DiGeorge syndrome (MIM #188400)	45 genes	n/a
20AC133	M	1	ASD	60 K	Yp11.32p11.2 (2,184,259–10,029,472) X2; Yq11.21q12 (13,675,923–28,804,541) X2	7.8 15	47,XYY/16,XY syndrome		n/a

ASD = autism spectrum disorder; CMA = chromosomal microarray;Dn = de novo; ID: identification, Pat asym = asymptomatic father; n/a = not available. M = male; F = female.