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Table 1 Clinical and molecular features of patient

From: 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

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