Aneuploidy is a genetic abnormality involving an atypical number of chromosomes, leading to disorders such as Down syndrome, Edwards syndrome, Patau syndrome, and Turner syndrome. These conditions can cause developmental delays and congenital malformations. Techniques like amniocentesis, CVS, and NIPT help in early detection and management of these genetic variations, which are crucial for healthcare professionals and expectant parents.
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Genes are primarily made up of DNA and RNA and carry instructions for making proteins
Self-Replication
Genes are capable of self-replication, passing on genetic information to offspring
Mutation
Genes can undergo mutation, leading to variation and evolution
Genes are organized and packaged within chromosomes, which are structures made up of DNA and histones
Chromosomes are structures within the cell nucleus made up of DNA and proteins called histones
Autosomes
Humans typically have 22 pairs of autosomes, which carry genes for non-sexual traits
Sex Chromosomes
Humans typically have one pair of sex chromosomes, which determine an individual's sex
Each chromosome has a matching pair, known as homologous chromosomes
Each gene has two variants, called alleles
Prenatal diagnostic procedures such as amniocentesis and chorionic villus sampling can identify aneuploidy in fetal cells
Non-invasive prenatal testing can detect fetal DNA in the mother's blood
Ultrasound examinations, particularly measuring nuchal translucency, can suggest the likelihood of aneuploidy
If initial screenings indicate a high risk, confirmatory invasive testing is advised, and further genetic counseling and evaluation may be necessary
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Function of genes in organisms
Genes carry instructions for protein synthesis, essential for organism functions.
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Mechanisms of genetic inheritance
Genes replicate self, pass genetic info to offspring, mutations cause variation.
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Human chromosome count and types
Humans have 23 chromosome pairs: 22 autosomes, 1 sex chromosome pair determining sex.
