Supplementary Material for: Oligoarray (105K) CGH Analysis of Chromosome Microdeletions within 10q22.1q24.32

2010-08-12T00:00:00Z (GMT) by Reddy K.S. Mardach R. Bass H.
To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795–77,077,025)×1dn, arr 10q22.3q23.2(81,437,039–89,144,374)×1dn and arr 10q23.33q24.32(94,894,780–103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1–q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.