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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%)