Genetic Disease and Chromosomal Abnormalities

A set of 75 vocabulary flashcards covering key concepts related to genetic diseases and chromosomal abnormalities.

Chromosome

A structure in the nucleus of a cell that contains DNA and genetic information.

Karyotype

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

Aneuploidy

A chromosomal abnormality in which the number of chromosomes is not an exact multiple of the haploid number.

Polyploidy

A condition where a cell has more than two complete sets of chromosomes.

Robertsonian translocation

A chromosomal rearrangement involving two acrocentric chromosomes that results in the fusion of their long arms and loss of their short arms.

Reciprocal translocation

A chromosomal defect caused by the interchange of segments between non-homologous chromosomes.

Down syndrome

A genetic disorder caused by the presence of an extra copy of chromosome 21, characterized by intellectual disability and physical anomalies.

FISH

Fluorescence in situ hybridization; a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences.

Array Comparative Genome Hybridization

A cytogenetic technique for analyzing copy number variations across a genome.

Microdeletion

A deletion of a small part of a chromosome that may lead to genetic disorders.

Trisomy

The presence of an extra chromosome, resulting in a total of three copies of a particular chromosome.

Monosomy

The presence of only one chromosome from a pair, instead of the normal two.

Cri du Chat syndrome

A genetic disorder caused by a deletion of part of chromosome 5, characterized by a high-pitched cry and developmental delays.

Wolf-Hirschhorn syndrome

A genetic disorder caused by a deletion of part of chromosome 4, presenting with characteristic facial features and developmental delays.

DiGeorge syndrome

A genetic disorder caused by a microdeletion at chromosome 22q11, leading to various developmental problems.

Klinefelter syndrome

A genetic condition in males characterized by the presence of an extra X chromosome, leading to infertility and other physical features.

Turner syndrome

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

Maternal age effect

The increased risk of chromosomal abnormalities, such as Down syndrome, in babies born to older mothers.

Non-disjunction

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

Barr body

An inactive X chromosome in females, which forms a dense mass in the cell.

Nuchal translucency scan

An ultrasound test done in the first trimester to assess the risk of Down syndrome and other chromosomal abnormalities.

Polyploidy

A condition in which a cell has more than two complete sets of chromosomes.

Translocation

A genetic occurrence where a segment from one chromosome is transferred to another chromosome.

Autosomal abnormalities

Genetic disorders caused by mutations in non-sex chromosomes.

Sex chromosome abnormalities

Genetic disorders arising from anomalies in the sex chromosomes.

Microarray analysis

A method used to detect the presence of multiple genetic mutations and variations.

Prenatal diagnosis

Diagnostic tests performed during pregnancy to determine if a fetus has certain genetic disorders.

Chromosomal deletion

A chromosomal abnormality where part of a chromosome or a whole chromosome is missing.

Duplication

A chromosomal mutation where a segment of the chromosome is duplicated, resulting in extra genetic material.

Inversion

A chromosomal rearrangement where a segment of a chromosome is reversed end to end.

Ring chromosome

A chromosome that forms a closed circular structure due to deletion of the ends of chromosome arms.

Cytogenetics

The study of chromosomes and their role in genetics.

G banding

A technique used to stain chromosomes to produce a pattern of light and dark bands for analysis.

Chromatid

One-half of a duplicated chromosome, which is joined by a centromere.

Centromere

The region of a chromosome where the two sister chromatids are joined.

Telomere

The protective cap at the end of a chromosome that helps prevent degradation.

Genetic basis

The underlying genetic causes and mechanisms that lead to the expression of a trait or disorder.

Autosome

Any chromosome that is not a sex chromosome.

Haploid

A cell with a single set of chromosomes, typical of gametes.

Diploid

A cell with two complete sets of chromosomes, one from each parent.

Syndrome

A collection of signs and symptoms that occur together and characterize a particular abnormality.

Genetic screening

Testing a population or group to assess their risk of carrying a genetic disorder.

Amniocentesis

A prenatal procedure used to obtain amniotic fluid for genetic testing.

Chorionic Villus Sampling (CVS)

A prenatal test that involves taking a sample of tissue from the placenta for genetic analysis.

Phenotype

The observable characteristics or traits of an organism, resulting from the interaction of its genotype with the environment.

Genotype

The genetic constitution of an individual, specifically the alleles present at a given locus.

Epigenetics

The study of changes in gene expression that do not involve alterations to the underlying DNA sequence.

Cell division

The process by which a parent cell divides into two or more daughter cells.

Fertilization

The union of a sperm and egg cell to form a zygote.

Meiosis

A specialized type of cell division that reduces the chromosome number by half, resulting in four haploid cells.

Mitosis

A type of cell division that results in two identical daughter cells, maintaining the same chromosome number.

Clinical features

The symptoms and signs associated with a particular disease or syndrome.

Genetic counseling

A process to help individuals understand genetic disorders and the implications for themselves and their families.

Behavioral disorders

Mental health conditions that affect mood, thinking, and behavior.

Intellectual disability

A condition characterized by significant limitations in intellectual functioning and adaptive behavior.

Structural abnormalities

Alterations in the structure of chromosomes that may lead to genetic disorders.

X-linked disorder

A genetic disorder caused by mutation on the X chromosome.