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Accession IconGSE43583

Genome wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

Organism Icon Homo sapiens
Sample Icon 13 Downloadable Samples
Technology Badge Icon Affymetrix Human Human Exon 1.0 ST Array (huex10st)

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Description
We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. The mechanisms by which the genes in the deleted region exert their effect are unclear. In this paper we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observed phenotype. We analyzed gene expression of lymphoblastoid cells derived from peripheral blood of the proband and his relatives to ascertain the relative effects of the homozygous and heterozygous deletions.
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