Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32

K. S. Reddy, Rebecca Mardach, H. Bass

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)113-120
Number of pages8
JournalCytogenetic and Genome Research
Volume132
Issue number1-2
DOIs
StatePublished - Jan 1 2011
Externally publishedYes

Keywords

  • Micodeletions in 10q22.1q24.32
  • Oligoarray CGH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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