Inherited Chromosomal

Disorders
Type of Chromosomal Abnormalities
• Aneuploidy
• Deletion
• Inversion
• Ring
• Translocation
• Duplication
Mutations
• Missense Mutation
• Nonsense Mutation
Aneuploidy
• The presence of an abnormal number of chromosomes in a cell.
• It can be too few (45 and below) or too many (47 and above)
chromosomes.
• Examples:

• Down Syndrome (Trisomy 21). Cells contain 3 copies of the 21st

chromosome
• Turner Syndrome (Monosomy 23). One of the sex chromosomes is
not transferred
Deletion
• A certain part of a chromosome is missing, or part of the DNA code is
missing.
Inversion
Ring Chromosome
Translocation
Duplication
Effect
• Mutations oftentimes cause health problems in an individual
• Some more severe than others
• Some can cause death at an earlier age and some people live
normally until adulthood
• There would be some that would inherit predisposition to a certain
disease
• There would be some that would live normally until a certain age
Examples
• Klinefelter’s Syndrome
• Turner’s syndrome
• Down’s Syndrome
• Asperger’s Syndrome
• Huntington’s Chorea