Genetics and Pediatric Abnormalities Review

A comprehensive set of flashcards covering key vocabulary and concepts relevant to genetics and pediatric abnormalities, aimed at aiding exam preparation.

Genetics

The study of heredity and the variation of inherited characteristics.

Genomics

The branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.

X chromosome

One of the two sex chromosomes that determine an individual's sex; females typically have two X chromosomes.

Vitamin K

A vitamin necessary for blood clotting, often administered to newborns.

Erythromycin ointment

An antibiotic used to prevent eye infections in newborns.

PKU (Phenylketonuria)

A genetic disorder that results in a deficiency in the enzyme needed to metabolize phenylalanine.

Spina bifida

A birth defect in which the spinal column does not close completely, possibly leading to various complications.

Monosomy

A condition where one member of a chromosome pair is absent.

Trisomy

A condition where an extra chromosome is present in the cell, resulting in three copies instead of the normal two.

Down syndrome (Trisomy 21)

A genetic disorder caused by the presence of an extra chromosome 21, leading to developmental and physical challenges.

Turner syndrome

A chromosomal disorder in females characterized by the absence of all or part of one of the X chromosomes.

Klinefelter syndrome

A genetic condition in males that results from the presence of an extra X chromosome, leading to physical and reproductive challenges.

Karyotype

The number and appearance of chromosomes in the nucleus of a eukaryotic cell.

Nondisjunction

The failure of homologous chromosomes to separate properly during cell division.

Crossover

The exchange of genetic material between homologous chromosomes during meiosis.

Fetal alcohol syndrome

A set of physical and developmental conditions in a baby caused by alcohol exposure in the womb.

Facial features of Down syndrome

Distinctive characteristics including a flat nasal bridge, slanted eyes, and a protruding tongue.

Congenital heart defects

Structural problems with the heart present at birth that affect normal blood flow.

Sickle cell disease

A genetic condition where the body produces abnormal hemoglobin, leading to distorted (sickled) red blood cells.

Cystic fibrosis

A genetic disorder that causes severe damage to the lungs and digestive system, resulting in thick, sticky mucus.

Muscular dystrophy

A group of genetic diseases that lead to progressive muscle degeneration and weakness.

The sweat test

A test used to diagnose cystic fibrosis by measuring the amount of chloride in sweat.

Hemoglobin electrophoresis

A lab test that measures the different types of hemoglobin in the blood to diagnose blood disorders.

Anemia

A condition in which the blood does not have enough healthy red blood cells, leading to fatigue and weakness.

Mitosis

The process of cell division that results in two genetically identical daughter cells.

Neural tube defects

Birth defects that occur when the spinal cord or brain does not close completely during early development.

Amniocentesis

A procedure in which a small amount of amniotic fluid is tested for genetic abnormalities.

Genetic counseling

A service that provides information and support to individuals or families concerning genetic disorders.

Autism spectrum disorder (ASD)

A developmental disorder that affects communication, behavior, and social interaction.

Inherited disorders

Genetic conditions passed from parents to offspring through genes.

Genetic mutation

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

Folic acid deficiency

A lack of folic acid that can lead to neural tube defects in developing infants.

Syndrome

A group of symptoms that consistently occur together or a condition characterized by a particular abnormality.

Pedigree chart

A diagram that shows the occurrence of a genetic trait in several generations of a family.

Chromosome 7

The chromosome associated with the cystic fibrosis gene.

Intrusive prenatal testing

Medical tests conducted during pregnancy to assess the fetus's health, including genetic tests.

Environmental factors

Non-genetic influences that can affect development and health outcomes.

Nondisjunction during meiosis

The failure of chromosome pairs to separate properly during cell division, leading to aneuploidy.

Major indications in genetic disorders

Key signs or symptoms that indicate the presence of a genetic disorder.

Minor indications in genetic disorders

Less prominent signs or symptoms associated with genetic disorders.

Genetic variant

A specific change in the DNA sequence of a gene.

Imprinting

A genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner.

Beta thalassemia

A blood disorder that reduces the production of hemoglobin, leading to anemia.

Hyperbilirubinemia

Excess bilirubin in the blood, leading to jaundice, often seen in newborns.

Genetic predisposition

An increased likelihood of developing a particular disease based on a person's genetic makeup.

Blood typing

Determining a person's blood group based on the presence of antigens on the surface of red blood cells.

Carrier screening

Testing to determine whether an individual carries a specific gene for a genetic disorder.

Non-invasive prenatal testing (NIPT)

A method of determining the risk of certain genetic conditions in a fetus using a blood sample from the mother.

Polycystic kidney disease

A genetic disorder characterized by the growth of numerous cysts in the kidneys.

Beta-globin gene

A gene associated with the production of a component of hemoglobin.

Newborn screening

The testing provided to newborns to detect certain genetic, metabolic, and infectious conditions.

Inflammatory bowel disease

A group of inflammatory conditions of the colon and small intestine, which may be genetic.

Immunosuppressive therapy

Treatment that suppresses the immune response, often used in genetic disorders.

Health disparities

Differences in health outcomes and their determinants between different segments of the population.

Longitudinal studies

Research that follows the same subjects over a period of time to observe changes.

Therapeutic interventions

Medical treatments intended to relieve or heal a disorder.

Holistic care

An approach to medicine that considers the whole person, including physical and mental health.

Clinical manifestations

Observable signs and symptoms of a disease or disorder.

Therapeutic levels

The concentration of a drug in the blood that produces the desired effect.

Referral to specialists

Directing a patient to a healthcare provider with advanced expertise in a particular area.

Psychosocial support

Assistance that addresses psychological and social aspects of an individual's health.

Ecosystem of care

A network of supportive resources and services available to individuals with health needs.

Nutritional counseling

Guidance on dietary practices to promote health and well-being.

Patient advocacy

Supporting and promoting the interests of patients in the healthcare system.

Genotype

The genetic constitution of an individual, particularly in relation to specific genes.

Phenotype

The observable characteristics or traits of an individual resulting from the interaction with the environment.

Cultural competence

The ability of healthcare providers to understand and respond effectively to the cultural and language needs of patients.

Sex-linked traits

Traits that are associated with genes located on sex chromosomes.

Chromosomal abnormalities

Changes in the normal structure or number of chromosomes, which can lead to genetic disorders.

Lymphedema

Swelling due to a buildup of lymph fluid, often seen in Turner syndrome.

Blood coagulation tests

Laboratory tests used to measure the blood's ability to clot.

Echocardiogram

An imaging test that uses sound waves to create pictures of the heart.

Genetic inheritance patterns

Ways in which genetic traits are passed from parents to offspring, including autosomal dominant and recessive.

Symptomatic treatment

Treatment aimed at relieving symptoms without addressing the underlying cause of the disease.

Clinical trials

Research studies that involve people and test new ways to prevent, detect, or treat diseases.

Neonatal care

Medical care for newborn infants, often critical for those with genetic disorders.

Surveillance screening

Regular testing of individuals at risk for certain conditions or diseases.

Emergency interventions

Immediate and often critical medical procedures conducted to prevent a patient's condition from worsening.

Quality of life considerations

Factors that assess an individual's overall well-being and life satisfaction.

Chronic illness management

Long-term strategies for managing ongoing health conditions.

Educational resources

Tools and materials designed to provide information and teaching on a subject.

Public health initiatives

Programs designed to improve population health through prevention and education.

Data registry studies

Research that collects health-related data over time for analysis.

Pediatric genetics

The branch of medicine that deals with genetic disorders in children.

Non-genetic factors

Environmental or lifestyle influences that affect health but are not inherited.

Translocation abnormalities

Chromosomal abnormalities caused by sections of DNA being rearranged between different chromosomes.

Mutation analysis

A lab method to detect changes in genes that may cause disease.

Informed consent

The process of obtaining voluntary agreement from a patient after fully informing them of the risks and benefits.

Health education programs

Classes or materials that provide information about health topics and practices.

Ethical considerations in genetics

Moral implications and responsibilities involved in genetic testing and treatment.

Nursing assessments in genetics

Systematic evaluations of a patient's health that incorporate their genetic history.

Gene therapy

An experimental technique that uses genes to treat or prevent diseases.

Multidisciplinary teams in healthcare

Groups of healthcare professionals from diverse fields working together to deliver comprehensive care.

Health inequities

Differences in health outcomes that are avoidable and unfair.

Genetic risk assessment

Evaluation of the likelihood of an individual inheriting or passing on a genetic condition.

Diagnostic criteria for genetic disorders

Standardized guidelines used to identify and confirm genetic disorders.

Care coordination

The organization of patient care activities between multiple participants to improve quality.

Social determinants of health

The social and economic factors that influence individual and community health outcomes.

Ethnicity and genetic diversity

Variability in genes within and between ethnic groups.

Maternal health in genetics

The influence of a mother’s health and lifestyle on fetal development and genetic outcomes.