Chromosomal Rearrangements and Abnormal Phenotype

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Topic: Chromosomal Rearrangements and Abnormal Phenotype

Chantal Kelly
Member

posted 02-16-2006 04:43 PM

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!

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Chantal Kelly, MS
Developmental Genome Anatomy Project

IP: 170.223.183.178

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