UCSC Genome Bioinformatics
 Clinical Report

Below is an extract from a report from a clinical lab requested to do an array CGH test for a patient. There are several places in the report that provide access to the Genome Browser for further investigation. These entry points to the Browser are highlighted within.

At right is part of an image from a mouse embryo for the ortholog to the human LDB2 gene. (via VisiGene utility), which lies in the microdeletion region described in the report (right-click to enlarge).


image source: Mahoney Lab
source: MGI
Reference: Mouse Brain Organization Revealed Through Direct Genome-Scale TF Expression Analysis.
Year: 2004 Contributors: Gray P.A.,Fu H.,Luo P.,Zhao Q.,Yu J.,Ferrari A., et al.


  Cincinnati Children's Hospital Medical Center
  Array CGH Results

 

LABORATORY FINDINGS

  arr cgh 4p16.1p15.2 (RP11-787P19 -> RP11-450B14)x1
  arr 4p16.1p15.2 (rs1006467 -> rs16883928)x1=20

Consistent with a deletion (loss) involving chromosome 4p of up to 16.325 Mb of DNA involving 16 clones localizing to chromosome 4p16.1-4p15.2. The proximal (centromeric) breakpoint has been mapped to within approximately 4.19 Mb as clone RP11-373D2 is not deleted, and the distal (telomeric) breakpoint has been mapped to within approximately 2.678 Mb as clone RP11-303M5 is not deleted.

Thanks to Jennifer Ruschman, Cincinnati Children's Hospital Medical Center