Medical Genetics

New medical genetics research from Baylor College of Medicine, College of Medicine described

Published in Genetics and Environmental Business Week, October 30th, 2008

According to recent research from the United States, "Paracentric inversions are one of the common chromosomal rearrangements typically associated with a normal phenotype. However, if dosage-sensitive genes are disrupted by the breakpoints, an abnormal phenotype could result."

"Detection of paracentric inversions often relies on careful high resolution banding, which has limited sensitivity. We report here cytogenetic studies performed on a 4-year-old female patient with global developmental delay, hypotonia, and dysmorphic features. The initial cytogenetic evaluation by G-banding revealed a de novo inversion of chromosome 14. Subsequent array CGH analysis using both a...

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Source: Genetics and Environmental Business Week (2008-10-30)

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