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Table 1 Clinical overview of RC patients for whom non-polymorphic CNVs vs likely benign and polymorphic CNVs were detected in the aCGH

From: Genomic imbalances defining novel intellectual disability associated loci

Pathogenic + Likely pathogenic (n = 23) Polymorphic CNVs (n = 134)
Gender Gender
 Males 15 (65%) Males 84 (63%)
 Females 8 (35%) Females 50 (37%)
ID ID
 Syndromic 19 (83%) Syndromic 74 (55%)
 Non-syndromic 4 (17%) Non-syndromic 60 (45%)
 Borderline 1 (4%) Borderline 8 (6%)
 Mild 15 (65%) Mild 75 (56%)
 Moderate 6 (26%) Moderate 30 (22%)
 Severe 0 (0%) Severe 15 (11%)
 Profound 1 (4%) Profound 6 (4%)
History History
 Sporadic 11 (48%) Sporadic 54 (40%)
 Family history of ID 15 (65%) Family history of ID 80 (60%)
Co-morbidities Co-morbidities
 Congenital anomalies 11 (48%) Congenital anomalies 64 (48%)
 Epilepsy 2 (9%) Epilepsy 19 (14%)
 Microcephaly 4 (17%) Microcephaly 23 (17%)
 Macrocephaly 1 (4%) Macrocephaly 13 (10%)