Chromosomal Basis of Inherited Disorders

Inherited disorders can arise when chromosomes behave abnormally during meiosis. Chromosome disorders can be due to abnormalities in chromosome number or due to chromosomal structural rearrangements.

Identification of chromosomes

The isolation and microscopic observation of chromosomes forms the basis of cytogenetics and is the primary method by which clinicians detect chromosomal abnormalities in humans.
A karyotype is the number and appearance of chromosomes, and includes their length, banding pattern, and centromere position.
- To obtain a view of an individual’s karyotype, cytologists photograph the chromosomes and then cut and paste each chromosome into a chart, or karyogram

Disorders in chromosome number

Disorders of chromosome number include the duplication or loss of entire chromosomes, as well as changes in the number of complete sets of chromosomes.
They are caused by nondisjunction, which occurs when pairs of homologous chromosomes or sister chromatids fail to separate during meiosis.
- Misaligned or incomplete synapsis, or a dysfunction of the spindle apparatus, can cause nondisjunction.
The risk of nondisjunction occurring increases with the age of the parents.

Nondisjunction

Nondisjunction can occur during either meiosis I or II, with differing results.
If homologous chromosomes fail to separate during meiosis I:
- The result is two gametes that lack that particular chromosome and two gametes with two copies of the chromosome.
If sister chromatids fail to separate during meiosis II:
- The result is one gamete that lacks that chromosome, two normal gametes with one copy of the chromosome, and one gamete with two copies of the chromosome.

Nondisjunction

Aneuploidy

An individual with the appropriate number of chromosomes for their species is called euploid.
- In humans, euploidy corresponds to 22 pairs of autosomes and one pair of sex chromosomes.
An individual with an error in chromosome number is described as aneuploid, a term that includes:
- Monosomy, a loss of one chromosome.
- Trisomy, a gain of an extraneous chromosome.

Trisomy 21

The most common trisomy among viable births is that of chromosome 21, which corresponds to Down Syndrome.
Individuals with an extra chromosome 21 may synthesize an abundance of the gene products encoded by that chromosome.
- This extra dose (150 percent) of specific genes can lead to a number of functional challenges.
Individuals with this inherited disorder are characterized by short stature and stunted digits, facial distinctions, and developmental delays.

1Cell Biology

2Molecular Biology

2.1Water

2.1.1Water & Hydrogen Bonding

2.1.2IB Multiple Choice - Water & Hydrogen Bonding

2.1.3Extended Response - Water

2.2Carbohydrates & Lipids

2.2.1Monosaccharides

2.2.2Disaccharides & Polysaccharides

2.2.3Triglycerides & Phospholipids

2.2.4Cellulose

2.2.5Starch & Glycogen

2.3Proteins

2.3.1Structure & Functions of Proteins

2.4Enzymes

2.4.1Enzymes

2.4.2Factors Affecting Enzyme Activity

2.4.3Enzyme-Controlled Reactions

2.4.4End of Topic Test - Enzymes

2.5Structure of DNA & RNA

2.5.1DNA & RNA

2.6DNA Replication, Transcription & Translation

2.6.1Protein Synthesis

2.6.2Transcription & Translation

2.6.3End of Topic Test - DNA, Genes & Protein Synthesis

2.6.4Exam-Style Question - Protein Synthesis

2.6.5End of Topic Test - Coronavirus Translation

2.6.6IB Multiple Choice - Transcription

2.6.7IB Multiple Choice - Translation

2.7Cell Respiration

2.7.1Overview of Respiration

2.7.2Anaerobic Respiration

2.7.3End of Topic Test - Anaerobic Respiration

2.7.4Respiration Experiments

2.7.5End of Topic Test - Respiration

2.7.6IB Multiple Choice - Respiration

2.8Photosynthesis

2.8.1Overview of Photosynthesis

3Genetics

4Ecology

4.1Species, Communities & Ecosytems

4.1.1Population Dynamics

4.1.2Communities & Measuring Diversity

4.1.3Relationships Between Populations

4.1.4Overview of Ecosystems

4.1.5Nutrient Cycles

4.1.6Fertilisers

4.1.7Eutrophication

4.1.8Chi-Squared Test

4.2Energy Flow

4.2.1Energy

4.2.2Energy Flow

4.2.3Biomass & Food Chains

4.2.4Heterotrophs & Autotrophs

4.3Carbon Cycle

4.3.1Carbon Cycle

4.4Climate Change

4.4.1Carbon Dioxide

4.4.2The Greenhouse Effect

4.4.3Global Warming

4.4.4Maintaining Biodiversity

5Evolution & Biodiversity

5.1Evidence for Evolution

5.1.1Evidence for Evolution - Fossils & DNA

5.1.2Evidence for Evolution - Anatomy & Geography

5.1.3IB Multiple Choice - Evidence for Evolution

5.1.4Extended Response - DNA & Evolution

5.2Natural Selection

5.2.1Introduction

5.2.2Evolutionary Fitness

5.2.3Natural Selection & Variation

5.2.4End of Topic Quiz - Natural Selection

5.2.5IB Multiple Choice - Natural Selection

5.2.6Speciation

5.3Classification of Biodiversity

5.3.1Introduction to Biodiversity

5.3.2Keystone Species

5.3.3Courtship & Ancestry

5.3.4Classification

5.4Cladistics

5.4.1Evolutionary Relationships

5.4.2IB Multiple Choice - Species & Taxonomy

6Human Physiology

6.1Digestion & Absorption

6.1.1Overview of Digestion

6.1.2Digestion in Mammals

6.1.3Absorption

6.1.4End of Topic Test - Substance Exchange & Digestion

6.1.5End of Topic Test - Substance Ex & Digestion

6.2The Blood System

6.2.1The Circulatory System

6.2.2The Heart

6.2.3Blood Vessels

6.2.4Cardiovascular Disease

6.3Defence Against Infectious Disease

6.3.1Immune System

6.3.2The Immune Response

6.3.3Antibodies

6.3.4Primary & Secondary Response

6.3.5Vaccines

6.3.6HIV

6.3.7End of Topic Test - Immune System

6.3.8Exam-Style Question - Immune System

6.3.9End of Topic Test - Immune System

6.4Gas Exchange

6.4.1Lung Structure & Alveoli

6.4.2Ventilation

6.4.3Lung Disease

6.4.4Lung Disease Data

6.5Neurons & Synapses

6.5.1Neuron Structure

6.5.2Transmission of an Impulse

6.5.3Speed of Transmission

6.5.4End of Topic Test - Neurones & Action Potentials

6.5.5Synapses

6.5.6Types of Synapse

6.5.7Medical Application

6.5.8End of Topic Test - Synapses

6.5.9End of Topic Test - Nervous Comm&Coord

6.6Hormones, HomeoStasis & Reproduction

6.6.1Overview of Homeostasis

6.6.2Blood Glucose Concentration

6.6.3Controlling Blood Glucose Concentration

6.6.4End of Topic Test - Blood Glucose

6.6.5Type I & Type II Diabetes

6.6.6Human Reproductive Systems

6.6.7Hormonal Control of the Menstrual Cycle

7AHL: Nucleic Acids

7.1DNA Structure & Replication

7.1.1DNA

7.1.2RNA

7.1.3DNA Replication

7.1.4DNA Replication - Summary

7.1.5IB Multiple Choice - DNA Replication

7.2Transcription & Gene Expression

7.2.1Introduction to Transcription & Protein Synthesis

7.2.2Types of RNA

7.2.3Transcription

7.2.4RNA Processing in Eukaryotes

7.2.5IB Multiple Choice - Transcription

7.3Translation

7.3.1Translation

7.3.2Retroviruses

7.3.3Scientific Practices: Coronavirus

7.3.4IB Multiple Choice - Translation

8AHL: Metabolism, Cell Respiration & Photosynthesis

8.1Metabolism

8.1.1Molecules to Metabolism

8.2Cell Respiration

8.2.1Glycolysis

8.2.2Aerobic Respiration

8.3Photosynthesis

8.3.1Light-Dependent Reaction

8.3.2Light-Independent Reaction

8.3.3End of Topic Test - Photosynthesis Reactions

8.3.4Limiting Factors

8.3.5Photosynthesis Experiments

8.3.6End of Topic Test - Photosynthesis

8.3.7End of Topic Test - Photosynthesis

9AHL: Plant Biology

9.1Transport in the Xylem of Plants

9.1.1Structure

9.1.2Cohesion-Tension Theory

9.1.3Investigating Transpiration Rate

9.2Transport in the Phloem of Plants

9.2.1Structure

9.2.2Translocation

9.3Growth in Plants

9.3.1Plant Tropisms

10AHL: Genetics & Evolution

10.1Meiosis

10.1.1Stages of Meiosis

10.2Inheritance

10.2.1Linked Genes

10.2.2Sex-Linked Genes

10.2.3Non-Nuclear Inheritance

10.2.4Chi-Squared Test

10.2.5End of Topic Quiz - Inheritance

10.2.6IB Multiple Choice - Non-Mendelian Genetics

10.2.7Introduction to Non-Mendelian Inheritance

10.2.8Extended Response - Inheritance

10.2.9Grade 4-5 (Scientific Practices) - Inheritance

10.3Gene Pools & Speciation

10.3.1Populations

10.3.2Mutations, Genetic Drift, & Gene Flow

10.3.3Speciation

10.3.4Rate of Speciation

10.3.5Allopatric & Sympatric Speciation

11AHL: Animal Physiology

11.1Antibody Production & Vaccination

11.1.1Immune System

11.1.2The Immune Response

11.1.3Antibodies

11.1.4Primary & Secondary Response

11.1.5Vaccines

11.2Movement

11.2.1Skeletal Muscle

11.2.2Sliding Filament Theory

11.2.3Contraction

11.3The Kidney & Osmoregulation

11.3.1Kidneys & Osmoregulation

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