Chromosomal Abnormalities and Disorders

Chromosomal Abnormalities

Genetic disorders from chromosome number or structure faults.

Hereditary Causes

Genetic factors passed from parents to offspring.

Nonhereditary Causes

Environmental factors affecting genetic outcomes.

Teratogens

Agents causing malformation in embryos or fetuses.

Advanced Maternal Age

Increased risk of chromosomal abnormalities in offspring.

Karyotype

Photographic display of an individual's chromosomes.

Fluorescent In Situ Hybridization (FISH)

Technique to identify specific chromosome parts.

Numerical Abnormalities

Chromosome count is either too high or too low.

Structural Abnormalities

Alterations in chromosome structure affecting function.

Klinefelter Syndrome

Condition from an extra X chromosome in males.

Turner Syndrome

Condition from a missing X chromosome in females.

Trisomy 21

Down syndrome caused by an extra chromosome 21.

Cri du Chat Syndrome

Deletion of part of chromosome 5 leading to distinct cry.

Nondisjunction

Failure of chromosome pairs to separate during cell division.

Monosomy X

Turner syndrome resulting from a missing X chromosome.

Chromosome Translocation

Transfer of a chromosome segment to another chromosome.

Chromosome Deletion

Loss of a chromosome segment affecting genetic material.

Miscarriage

Spontaneous loss of pregnancy, often due to chromosomal issues.

Sex Chromosomes

Chromosomes determining an individual's sex (X and Y).

Autosomes

Non-sex chromosomes that determine other genetic traits.

Trisomy 13

Patau syndrome caused by an extra chromosome 13.

Trisomy 18

Edwards syndrome caused by an extra chromosome 18.

Cell Division Errors

Mistakes during mitosis or meiosis affecting chromosome distribution.

Chromosomal Aberrations

General term for any change in chromosome structure or number.