Genetic Disorders and Chromosomal Abnormalities

Flashcards covering genetic disorders, chromosomal abnormalities, and associated terms to aid in learning for the exam.

Genome

The complete set of genes or genetic material present in a cell or organism.

Genomics

The study of genomes, including the structure, function, evolution, and mapping of genomes.

Population Health Screening

The systematic assessment of health data on a defined population to identify health risks and needs.

Cancer Screening

Tests conducted to detect cancer in individuals who do not show symptoms.

Neuro Issue

Refers to medical conditions related to the nervous system.

Cardiac

Relating to the heart.

Diabetes

A metabolic disorder characterized by high blood sugar levels over a prolonged period.

Chromosomal Anomalies

Irregularities in the shape or number of chromosomes, which can lead to genetic disorders.

Autosomal Dominant

A pattern of inheritance in which only one copy of a mutated gene from one parent can cause the disorder.

Down Syndrome

A genetic disorder caused by the presence of an extra copy of chromosome 21, leading to developmental issues.

Neuronal Anomaly

An irregularity in the development or growth of neurons.

Fetal Alcohol Syndrome (FAS)

A condition in a child resulting from alcohol exposure during the mother's pregnancy.

Trisomy 21

A genetic disorder caused by an extra chromosome 21, also known as Down syndrome.

Turner Syndrome

A genetic condition in females where one of the X chromosomes is missing or partially missing.

Klinefelter Syndrome

A genetic condition affecting males who have an extra X chromosome.

Marfan Syndrome

A genetic disorder that affects connective tissue, characterized by features like tall stature and long limbs.

Huntington’s Disease

A genetic disorder that causes the progressive breakdown of nerve cells in the brain.

Cystic Fibrosis

A genetic disorder that causes severe damage to the lungs and digestive system.

Sickle Cell Disease

A group of disorders that affect hemoglobin, the molecule in red blood cells that delivers oxygen to cells.

Tay-Sachs Disease

A fatal genetic disorder caused by a deficiency of the Hex-A enzyme, leading to the accumulation of fatty substances in the brain.

Genetic Testing

Tests performed to identify changes in chromosomes, genes, or proteins.

Gene Mutation

A permanent alteration in the DNA sequence that makes up a gene.

Echocardiogram

An ultrasound test that uses high-frequency sound waves to create images of the heart.

Neurofibromatosis

A genetic disorder causing tumors to grow on nerves.

Muscular Dystrophy

A group of genetic diseases resulting in muscle weakness and loss of muscle mass.

Pre-implantation Genetic Diagnosis

A technique used to identify genetic defects before implantation of the embryo.

Prenatal Screening

Tests conducted during pregnancy to assess the risk of certain genetic conditions.

Alpha-fetoprotein (AFP) Test

A blood test used to identify certain health conditions in a developing fetus.

Amniocentesis

A medical procedure used in prenatal diagnosis of chromosomal abnormalities.

Ultrasound

A medical imaging technique that uses high-frequency sound waves to visualize internal organs.

Thalassemia

A blood disorder involving less than normal amounts of an oxygen-carrying protein.

Fragile X Syndrome

A genetic condition causing intellectual disability, behavioral and learning challenges.

X-Linked Recessive Disorders

Genetic conditions that are determined by alleles located on the X chromosome.

Carrier

An individual who has a copy of a mutated gene but does not show symptoms of the genetic disorder.

Sex-linked Traits

Traits determined by genes located on sex chromosomes.

Chromosomal Translocation

A chromosome abnormality caused by rearrangement of parts between non-homologous chromosomes.

Autosomal Recessive

A mode of inheritance where two copies of an abnormal gene must be present for the disease or trait to develop.

Phenotype

The observable characteristics or traits of an organism.

Allele

Different forms of a gene found at the same locus on homologous chromosomes.

Nitric Oxide Synthase Gene

A gene that produces an enzyme vital for cardiovascular health.

Genetic Counseling

A communication process that helps individuals and families understand genetic conditions.

SNP (Single Nucleotide Polymorphism)

A variation in a single nucleotide that occurs at a specific position in the genome.

Gene Therapy

A technique that modifies a person's genes to treat or cure disease.

Anticipation Phenomenon

A genetic phenomenon where symptoms of a genetic condition become apparent at an earlier age or increase in severity with successive generations.

Glycogen Storage Disease

A group of inherited diseases that cause glycogen to be stored abnormally in the body.

Mosaicism

A condition in which cells within the same person have a different genetic makeup.

Cytogenetics

The branch of genetics that studies the structure and function of the cell, especially the chromosomes.

Pedigree Chart

A diagram that depicts the biological relationships between an organism and its ancestors.

Electrophoresis

A laboratory technique used to separate DNA, RNA, or proteins based on their size and charge.

Karyotyping

The process of pairing and ordering all the chromosomes of an organism.

Metabolic Disorder

A condition that disrupts normal metabolism, the process of converting food to energy.

Folic Acid

A B vitamin important for cell growth and metabolism, especially during pregnancy.

Neural Tube Defect

A birth defect that occurs when the backbone doesn’t close completely around the spinal cord.

Chorionic Villus Sampling (CVS)

A prenatal test to diagnose genetic defects in the fetus.

Syndrome

A group of symptoms that occur together and characterize a particular abnormality or condition.

Exome Sequencing

A technique for sequencing all the protein-coding regions of genes in a genome.

Germline Mutation

A mutation that occurs in the germ cells and can be passed to offspring.

Ehlers-Danlos Syndrome

A group of disorders affecting connective tissues, characterized by hyperelastic skin.

Nuchal Translucency Measurement

An ultrasound measurement of the clear (translucent) space in the tissue at the back of a developing baby's neck.

Informed Consent

A process for getting permission before conducting a healthcare intervention on a patient.

Transcription Factor

A protein that regulates the transcription of genes.

Phenotypic Variability

Differences in phenotype that can occur among individuals with the same genotype.

C Retrovirus

A type of virus that integrates its genome into the DNA of the host cell.

Imprinting Disorders

Genetic disorders involving genes that are expressed in a parent-of-origin specific manner.

Clinical Geneticist

A doctor who specializes in diagnosing and treating genetic disorders.

Inherited Mutations

Genetic changes that are passed from parent to child.

Manhattan Plot

A type of scatter plot used in genome-wide association studies.

Replication Fork

The area where the DNA double helix separates to allow replication.

Linkage Disequilibrium

The non-random association of alleles at different loci.

Pharmacogenomics

The study of how genes affect a person's response to drugs.

Whole Genome Sequencing

A comprehensive method for analyzing the entire genome.

Severe Combined Immunodeficiency (SCID)

A genetic disorder characterized by the disturbed development of functional T cells and B cells.

Congenital Heart Defect

A structural problem with the heart present at birth.

Clinical Trial

Research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans.

Carcinogenesis

The process by which normal cells are transformed into cancer cells.

Cutaneous Lymphoma

A type of cancer that begins in the skin.

Hemochromatosis

A disorder in which the body accumulates too much iron.