Fig. 2

The upper panel shows the triplication at 7q36.1q36.2 encompassing approximately 1.35 Mb in the child. The triplicated region included 77 probes. Five genes (GALNTL5, GALNT11, KMT2C, XRCC2, and ACTR3B are included in the triplicated region. The other two panels reveal the same region in the mother (middle) and father (bottom) showing normal dosage indicating that the triplication is de novo in the child. The test used was chromosomal microarray (CMA) via array comparative genomic hybridization (CGH) which compares a patient’s genomic DNA with a gender-matched reference genomic DNA to detect small copy number gains (duplications) and losses (deletions) on all 46 chromosomes in a single test. PreventionGenetics’ CMA contains ~110,000 distinct CGH probes distributed across the entire genome with a median probe spacing of ~25 kb, and ~59,000 single nucleotide polymorphism (SNP) probes. The CGH probes consist of the entire ISCA (International Standards for Cytogenomic Arrays) Consortium 8x60K version probe set and an additional 60,000 backbone probes (Agilent Technologies, Santa Clara, CA). This includes high-density coverage of ~500 targeted regions with the spacing of 5 kb per probe or at least 20 probes per gene region. These targeted regions include telomere and unique centromere FISH clone regions, microdeletion/duplication regions, genes of known haploinsufficiency, and X-linked mental retardation regions