Chromosomal Microarray: 
The SNP microarray analysis utilized the Cytoscan HD platform, incorporating over 743,000 SNP probes and 1,953,000 NPCN probes, with a median spacing of 0.88 kb. Genomic DNA from the provided sample type underwent extraction and digestion with NSP1, followed by ligation to NSP1 adaptors. PCR products were subsequently purified and quantified. The purified DNA was fragmented, biotin-labeled, and then hybridized to the Cytoscan HD GeneChip. Data analysis was conducted using the Chromosome Analysis Suite, referencing the GRCh37/hg19 assembly. The test’s development and performance characteristics were established by LabCorp. Microarray analyses were conducted for both the subject and their parents.