ALPHA
Familial cancer syndromes
Gatekeepers - directly regularte tumours gene growth - division and death RB1, APC Care takers - improve genetic stability p53, BRC…
Continue readingIdentifying Chromosomal Disorders
Edwards syndrome Trisomy 18 Small head, small jaw Clenched fists Di George syndrome Part of chromosome 22 is deleted Developme…
Continue readingInborn errors of metabolism
Hereditary fructose intolerance Missing enzyme aldolase B Fructose or sucrose hepatotoxic if ingested increased urate - low sugar Gala…
Continue readingAtopic individuals
People with a genetic predisposition to develop allergic conditions. Triad of: Asthma Eczema Food allergies
Continue readingHypoparathyroid
Underproduction of parathyroid hormone despite low calcium. Much rarer than hyperparathyroidism Primary Causes DiGeorge syndrome …
Continue readingGilbert Syndrome
Gilbert's syndrome inherited metabolic disorder with mild and intermittent elevation of unconjugated (indirect) bilirubin levels, due t…
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