Medical Genetics

Findings in medical genetics reported from Fu-Jen Catholic University

Published in Genetics and Environmental Health Week, June 3rd, 2009

According to a study from Taipei, Taiwan, "Chromosome 22q11 deletion syndrome (22q11DS) causes a developmental disorder during the embryonic stage, usually because of hemizygous deletions. The clinical pictures of patients with 22q11DS vary because of polymorphisms: on average, approximately 93% of affected individuals have a de novo deletion of 22q11, and the rest have inherited the same deletion from a parent."

"Methods using multiple genetic markers are thus important for the accurate detection of these microdeletions. We studied 12 babies suspected to carry 22q11DS and 18 age-matched healthy controls from unrelated Taiwanese families. We determined genomic variance...

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Source: Genetics and Environmental Health Week (2009-06-03)

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