Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.
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.
Reddy
K S
KS
Genetics Department, Kaiser Permanente of Southern California, 4580 Electronics Place, Los Angeles, CA 90039, USA. kavita.reddy@gmail.com
Mardach
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R
Bass
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D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization