File:Schematic diagram detailing genes deleted in probands.jpeg

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Schematic diagrams detailing genes deleted in probands. The red box on each diagram represents the affected region. The LCR-mediated, typical WS deleted region is shown in yellow on A and B. The RefSeq and sno/miRNA genes deleted for each proband are shown. Diagrams were adapted from UCSC Genome Browser [26]. (A,B) Genes affected on chromosome 7 including all or part of the WS typical region for probands (A) 8399, (B) 9164, 9061, 9101 and 9152. (C) Genes impacted by the deletion (red) and inversion (grey) on chromosome 5 of proband 9101. Note the disruption of CDH10 at the inversion junction. (D) Deletion on chromosome 1 of proband 9164 impacting 10 RefSeq genes.

Reference

Ariel M. Pani et al ‘’’ Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome.’’’ PLoS ONE: 2010, 5(8);e12349 PMID: 20824207


http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930846/#pone.0012349.s007


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Cite this page: Hill, M.A. (2024, June 17) Embryology Schematic diagram detailing genes deleted in probands.jpeg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Schematic_diagram_detailing_genes_deleted_in_probands.jpeg

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