Genetic Anomalies and Chromosomal Abnormalities

Flashcards covering key vocabulary and concepts related to genetic anomalies and chromosomal abnormalities.

Chromosome

A structure made of DNA and protein that carries genetic information.

Nucleus

The control center of a cell containing DNA.

Nucleotide

The building block of DNA, consisting of a sugar, a phosphate group, and a nitrogenous base.

Gene

A segment of DNA that codes for a protein or trait.

Nondisjunction

The failure of chromosomes to separate properly during cell division.

Monosomy

A chromosomal abnormality involving the absence of one chromosome from the normal pair.

Trisomy

A condition in which an extra chromosome is present, leading to a total of 47 chromosomes.

Down's syndrome

A genetic disorder caused by trisomy 21, characterized by developmental delays and physical features.

Klinefelter syndrome

A chromosomal condition in males characterized by an extra X chromosome.

Translocation

A chromosomal abnormality where a segment of one chromosome becomes attached to another chromosome.

Deletion

A genetic abnormality involving the loss of a chromosome segment.

Cri du chat syndrome

A genetic disorder caused by a deletion on chromosome 5, resulting in developmental issues and a characteristic cry.

Microdeletion

A small deletion on a chromosome that can lead to genetic abnormalities.

Angelman syndrome

A genetic disorder caused by a deletion or mutation of the UBE3A gene, leading to severe intellectual disability.

Prader-Willi syndrome

A genetic disorder caused by the loss of function of genes in a specific region of chromosome 15, leading to obesity and intellectual disability.

Adenine (A)

A nitrogenous base that pairs with Thymine in DNA.

Thymine (T)

A nitrogenous base that pairs with Adenine in DNA.

Cytosine (C)

A nitrogenous base that pairs with Guanine in DNA.

Guanine (G)

A nitrogenous base that pairs with Cytosine in DNA.

Base pair

A pair of complementary nucleotides in a DNA molecule.

Single Gene Mutation

A change in the DNA sequence of a single gene that can lead to a genetic disorder.

Huntington Disease

A genetic disorder caused by a dominant mutation that leads to nerve cell degeneration.

Muscular dystrophy

A group of genetic disorders characterized by progressive weakness and degeneration of skeletal muscles.

Osteogenesis imperfecta

A genetic disorder characterized by fragile bones due to a defect in collagen production.