Tag: Genetic Disorders
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Isla Steed and the World of CHOPS Syndrome: A Rare Genetic Journey
Understanding CHOPS: A Rare Genetic Diagnosis CHOPS is a rare genetic syndrome whose acronym captures its core features: cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; short stature and skeletal abnormalities. Discovered only in 2015, CHOPS has affected a tiny number of people worldwide, with just a handful in Australia. For families…
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CHOPS Syndrome: The Australian Case and Global Drive for Rare-Disorder Awareness
Overview: A rare diagnosis with a global footprint Isla Steed is a 14-year-old from Port Lincoln, South Australia, whose life highlights the human side of an extremely rare genetic condition known as CHOPS. Short for cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; and short stature and skeletal abnormalities, CHOPS is a…
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Understanding Chromosome Crossovers and Fertility Protection
The Crucial Role of Chromosome Crossovers in Fertility When a woman becomes pregnant, the health of her pregnancy is contingent upon a pivotal process that unfolds even before her birth: the formation and quality of her egg cells. These egg cells, which are being developed in the ovaries while she is still a fetus, rely…
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Understanding Genetic Disorders and Recent Breakthroughs
Introduction to Genetic Disorders Genetic disorders have long been a challenging area of study in medical science. These conditions arise due to abnormalities in genes or chromosomes, affecting the development and function of the body’s systems. With humans possessing 23 pairs of chromosomes, totaling 46, genetic variations can have profound impacts on health and wellness.…