Genetic Disorders: Chromosomal Aberrations

This lecture covers the genetic basis of sex determination, inheritance of genes on sex chromosomes, and chromosomal aberrations leading to genetic diseases. Topics include deletions, duplications, inversions, translocations, and their impact on gene expression. The lecture also discusses non-disjunction during meiosis, resulting in conditions like Turner syndrome and aneuploidies. Furthermore, it explores genomic imprinting, the role of epigenetics in gene expression, and the consequences of chromosomal rearrangements. Key concepts include understanding gene linkage, dosage compensation in the X-Y system, and the six basic inheritance models in humans.

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XYY syndrome

XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average and an increased risk of learning disabilities. The person is generally otherwise normal, including typical rates of fertility. The condition is generally not inherited but rather occurs as a result of a random event during sperm development. Diagnosis is by a chromosomal analysis, but most of those affected are not diagnosed within their lifetime.

Chromosomal translocation

In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously.

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance).

Multiple inheritance

Multiple inheritance is a feature of some object-oriented computer programming languages in which an object or class can inherit features from more than one parent object or parent class. It is distinct from single inheritance, where an object or class may only inherit from one particular object or class. Multiple inheritance has been a controversial issue for many years, with opponents pointing to its increased complexity and ambiguity in situations such as the "diamond problem", where it may be ambiguous as to which parent class a particular feature is inherited from if more than one parent class implements said feature.

Robertsonian translocation

Robertsonian translocation (ROB) is a chromosomal abnormality wherein the entire long arms of two of a certain type of a chromosome called an acrocentric chromosome become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause direct health difficulties, however such persons are almost always infertile because their chromosome count does not match that of most humans.

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