4. What is genetic disorder?
• A genetic disorder is a disease caused by a
change (mutation) in an individual’s DNA
sequence.
• This includes birth defects, chronic
diseases, developmental problems, and
sensory deficits.
5. 1. Cri du chat
• Is caused by deletion of part of
the short arm of chromosome
5.
• Present from birth, affected
babies make high-pitched cries
that sound like a cat.
• Also known as cat cry
syndrome or 5p syndrome.
6.
7. 2. Down syndrome
• Is caused by an extra copy of
chromosome 21 (trisomy 21).
• Even though people with
Down syndrome may act and
look similar, each person has
different abilities.
• Development is often delayed.
8.
9. 3. Patau syndrome
• Is a genetic disorder in which
an individual has 3 copies of
chromosome 13 (trisomy 13).
• It is a serious rare condition
and disrupts normal
development and usually lead
to miscarriage, stillbirth, or
baby dying shortly after birth.
10.
11. 4. Edwards syndrome
• Is a severe condition
associated with
abnormalities in many body
parts.
• Trisomy 18 (three copies of
chromosome number 18)
• About 99% die in infancy.
12.
13. 5. Jacobsen syndrome
• Is a condition characterized by
the deletion of genetic
material from chromosome
11.
• It includes bleeding disorder.
• Rare—about 1 in 100,000
babies.
14. Some traits:
• short stature
• malformation of heart,
kidney, etc.
• Intellectual disability
15. 6. Klinefelter’s syndrome (XXY)
• Is the most frequent sex
chromosomal genetic disorder
that affect males.
• The male have an extra X
chromosome.
• Can experience breast growth,
breast cancer, osteoporosis,
infertility, and learning
difficulties.
16.
17. 7. Turner’s syndrome (X)
• Is a female-only genetic
disorder.
• The male only have 1 normal x
chromosome, rather than the
usual 2.
• Usually short stature and wide
neck, low hairline, teeth
problems, arms that turn out
slightly at the elbow.