A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

Table 1 Clinical and molecular features of patient

Clinical features*	Age (yo)	Sex	CNV	Mosaic (%)	Cytoband	Size (Mb)	Marker count	Microarray nomenclature	Number of genes	Selected OMIN Morbid Genes**	Origin	Interpretation
GDD, MS, MCA	4	F	Loss		7q31.1	0.39	265	7q31.1(110,923,434-111,310,159)x1	1	IMMP2L	Inherited mat	LP
			Loss	30	18p11.32	1.23	1400	18p11.32(136,226-1,369,804)x1	11	ADCYAP1	de novo	LP
			Gain	40	18q11.1		53197	18q11.1q23(18,608,373-78,014,123)x 2-3		18q Partial Trissomy	de novo	Pathogenic
			Gain		Xp22.33	25.72	31456	Xp22.33p21.3(168,546-25,887,307)x3	147	NLGN4X, AP1S2, NHS, CDKL5, RPS6KA3, MBTPS2, SMS, ARX	de novo	Pathogenic

*GDD = Global Developmental Delay; MS = Multiple Stigmas, MCA = Multiple Congential Anomalies; **Genes related to ID/Autsm; yo = years old; LP = Likely Pathogenic.

ISSN: 1755-8166