Human Genetic Disorders Spring 2017

Human Genetic Disorders An abnormal condition that a person inherits through genes or chromosomes They are caused by: Mutations in the DNA of genes Changes in the overall structure or number of chromosomes

Human Genetic Disorders Pedigree- A diagram, or family tree, of genetic inheritance Used by geneticists to map genetic traits

Human Genetic Disorders Square = male Circle = female ½ shaded means a carrier of a trait Totally shaded means the person has/shows the trait Horizontal line = marriage line Vertical like and brackets connects parents to children

Human Genetic Disorders Karyotype- a photograph of a person’s chromosome arranged in pairs can reveal whether a person has the correct number of chromosomes.

Some genetic disorders caused by abnormal chromosome # Down Syndrome Aka Trisomy 21 Location: Chromosome 21 47 Chromosomes Intellectual disability Heart defects Respiratory infections

Some genetic disorders caused by abnormal chromosome # Edward’s Syndrome Aka Trisomy 18 Location: Chromosome #18 47 Chromosomes Severe intellectual disability Characteristic malformations

Some genetic disorders caused by abnormal chromosome # Turner’s Syndrome Location: Single X in a female instead of XX 45 chromosomes Females only Infertile No secondary sex characteristics

Some genetic disorders caused by abnormal chromosome # Kleinfelter’s Syndrome Extra X in a male (XXY) 45 chromosomes Males only Sterile Otherwise a normal appearance