Germline copy number variation (CNV)
Assessing germline CNVs using exome data, seven rare copy number changes
were detected, four with clinical relevance, all of which were validated
by CMA. The encompassed genomic regions did not include CPGs or genes
associated with the patients’ phenotypes (Table 5 ). A
pathogenic Y chromosome aneuploidy was detected in P19 (Jacob syndrome
47, XYY). P21 and P28 paternally inherited 15q11.2 copy number gain and
loss, respectively, which are classified as risk factors for
neurodevelopmental disorders, mainly global delay and intellectual
disability.