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Author Topic:   Chromosomal Rearrangements and Abnormal Phenotype
Chantal Kelly
posted 02-16-2006 04:43 PM     Click Here to See the Profile for Chantal Kelly   Click Here to Email Chantal Kelly     Edit/Delete Message Reply w/Quote
Developmental Genome Anatomy Project (DGAP): Patients with balanced and unbalanced chromosomal rearrangements and at least one congenital anomaly (stuctural, cognitive and/or neurological) are being sought for participation in a gene discovery research project (http://dgap.harvard.edu). We will enroll cases that are either de novo or familial IF the rearrangement segregates with the phenotype. Individuals with unbalanced rearrangements will be considered if the rearrangement involves a chromosomal region AND phenotype that overlas with an existing DGAP case. Goals of DGAP include rapid mapping of chromosomal breakpoints, positional cloning of genes interrupted or dysregulated at the breakpoints, and validation of genes identified in specific anomalies through creation of animal models. Further description of DGAP and contact information are all available on the website, or by contacting Azra Ligon (aligon@rics.bwh.harvard.edu; 617-732-7671) or Chantal Kelly (ckelly8@partners.org; 617-525-4548). Your assistance in this project is deeply appreciated!

Chantal Kelly, MS
Developmental Genome Anatomy Project


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