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1q21.1 Chromosome Microdeletion

The Discovery of 1q21.1 Microdeletion Syndrome: A New Perspective on the Blanchard Case

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In 2008, the medical world made a groundbreaking discovery with the identification of 1q21.1 microdeletion syndrome, a rare chromosomal disorder linked to developmental delays, neurological challenges, and psychiatric vulnerabilities. Published in the New England Journal of Medicine, this study brought long-awaited clarity to families grappling with unexplained medical conditions. For the Blanchard family, this discovery...Read More
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