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Author Topic:   Comprehensive analysis of WHS using Genomic Microarray
posted 02-16-2006 09:38 AM     Click Here to See the Profile for Administrator     Edit/Delete Message Reply w/Quote
A team of medical geneticists at the University of Utah is conducting a study on the genetic causes and the possible role of chromosome translocations on the clinical manifestations of Wolf-Hirschhorn Syndrome (WHS; also known as 4p- syndrome). At least 15% of individuals with WHS have an unbalanced chromosome translocation that results in the loss of chromosome 4 material, thereby causing WHS. These individuals also have a duplication of another portion of their DNA and this duplication may be undetected by traditional karyotype or FISH analysis.
This team of researchers will examine the DNA of individuals with WHS using a new technology called genomic microarray (also known as array CGH) that can detect these very subtle changes to the DNA and will correlate the new genetic information with the clinical manifestations of the individuals.

Participants will be asked to provide approximately 1 teaspoon of blood and a clinical questionnaire will be sent to the primary care giver of the participant in order to determine the clinical status of the participant. The researchers are interested in all individuals diagnosed with WHS, regardless of whether or not they are known to have a chromosome translocation. The researchers hope that this study will help us more fully understand the relationship between the genetic causes of WHS and the clinical outcome.

The Principle Investigator of this study is Dr. Sarah South. Dr. South will have the assistance of Dr. Arthur Brothman for the chromosome work and Dr. John Carey for the clinical aspects. If you know of patients who may be interested in participating in this study, or have questions about this study, please refer them to Dr. Sarah South at the University of Utah. Dr. South can be reached by email: sarah.south@hsc.utah.edu or by phone: 801-581-5524.


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