1. Human Genetic Disorders
Spring 2017

2. 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

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

4. 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

5. 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.

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

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

8. 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

9. 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