Chromosomal Mutations Honors Biology. Review: Gene Mutations “Micromutations” Small changes to DNA – One or several bases – Change can be positive, negative,

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Chromosomal Mutations Honors Biology

Review: Gene Mutations “Micromutations” Small changes to DNA – One or several bases – Change can be positive, negative, or neutral Can be passed to offspring if in gametes

Chromosomal Mutations “Macromutations” Large changes to DNA segments/chromosomes – Can be structural (part of chromosome) – Can be a change in chromosome number (whole chromosome) Usually a meiosis error – So not always a mutation passed from parents to offspring Diagnosable through karyotyping or gene testing

STRUCTURAL MUTATIONS

Deletion A portion of a chromosome is missing Ex: cri du chat syndrome

Duplication A portion of a chromosome is duplicated Ex: Charcot–Marie–Tooth disease

Inversion A chromosome undergoes breakage and rearrangement within itself Ex: chromosome 9 inversion leads to infertility in 1-3% of the general population (improper sperm formation in men, spontaneous miscarriage in females)

Translocation A portion of one chromosome is transferred to another chromosome Ex: chromosome 9 & 22 – chronic myelogenous leukemia

NUMBER MUTATIONS

Monosomy Missing one chromosome from a pair/pairs Ex: Turner Syndrome

Trisomy Three copies of a chromosome Ex: Down Syndrome