Genes and chromosomes 4: common genetic conditions

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This article has been double-blind peer reviewedIn this article…Definitions of nondisjunction and aneuploidyClinical features of common genetic disordersRules of inheritance of genetic disordersKey pointsAn aneuploidy is a deviation from the diploid number - the most well-known is Down’s syndromeTrisomies are disorders in which an extra chromosome is presentPeople with Klinefelter’s syndrome have an extra X chromosome, but their Y chromosome means they have a male phenotypeTurner’s syndrome is the only survivable chromosomal disorder in which an entire chromosome is missingSingle-gene defects can cause inheritable genetic diseases such as cystic fibrosis, albinism and Huntington’s diseaseGenetic disease often leads to unviable embryos or babies with very short lifespans. However, there are also survivable genetic diseases - for example, Down's syndrome, Klinefelter's syndrome, cystic fibrosis and Huntington's disease. Genetic diseases can be broadly classified into those affecting entire chromosomes (chromosomal disorders) and those affecting single genes (single-gene defects). This article explores these diseases, explains their causes, describes their clinical features and depicts their rules of inheritance. It is the fourth and last in our series on genes and chromosomes.CitationKnight J, Andrade M (2018) Genes and chromosomes 4: common genetic conditions. Nursing Times; 114: 10, 54-58.

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