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 human TBX1 gene (pane A) (via VisiGene utility) (right-click to enlarge).


image source: MGI
Reference: The T-box gene Tbx10 exhibits a uniquely restricted expression pattern during mouse embryogenesis.
Year: 2003 Contributors: Bush J.O.,Maltby K.M.,Cho E.S.,Jiang R.

  EmArray Cyto6000 - Oligonucleotide Array Analysis with FISH Confirmation


NOMENCLATURE: arr cgh 22q11.21(17,086,001bp->19,835,417bp)x1

Microarray and confirmatory Fluorescence In Situ Hybridization (FISH) analyses revealed an interstitial deletion of the long arm of chromosome 22 involving the 22q11.2 deletion syndrome region. The 22q11.2 deletion syndrome is also known as Velocardiofacial syndrome and DiGeorge syndrome (OMIM #192430) and is characterized by features such as developmental delays, particularly in the areas of speech/language, craniofacial anomalies, such as cleft palate, congenital heart defects, hypocalcemia and immune deficiency. The deletion in this individual is 2.75 Megabases (Mb) in size, consistent with the common 3.0 Mb deletion of the 22q11.2 Deletion syndrome region.

Thanks to Christa Martin, Emory University, for providing the original document.