brief intro to turner syndrom, a genetic disorder of unknown origin that affect X chromosome

1. TUR
NER
SYND
ROME
Brief intro

2. Turner syndrome
Turner syndrome (TS), discovered by Henry
Turner in 1938. also known as 45,X,, is a condition
in which a female/male is partly or completely
missing an X chromosome.

3. Female Karyotype
• left: monosomy (turner syndrome)
• right: standard normal condition

4. Symptoms
• short and webbed neck
• low-set ears
• low hairline at the
back of the neck
• short stature
• swollen hands and feet
at birth.

5. Problems facing TS patients
• development of menstrual periods and breasts
only with hormone treatment
• inability to have children without reproductive
technology
• Heart defects, diabetes, and low thyroid hormone
frequently exist.
• Normal intelligence.Many,
• troubles with spatial visualization
• Vision and hearing problems are frequent

6. Excluded factors
• Turner syndrome is not usually inherited from a
person's parents.
• No environmental risks are known.
• the mother's age does not play a role

7. Cause
• Turner syndrome is due to a chromosomal
abnormality in which all or part of one of the X
chromosomes is missing or altered. While most
people have 46 chromosomes, people with TS
usually have 45.

8. Variations of TS
• TS with mosaicism: The chromosomal
abnormality may be present in just some cells.
• the symptoms are usually fewer and possibly
none occur at all.
• Diagnosis is based on physical signs and genetic
testing.

9. Cure
No cure for Turner syndrome is known. Treatment,
however, may help with symptoms.
• Human growth hormone injections during
childhood may increase adult height.
• Estrogen replacement therapy can promote
development of the breasts and hips.
• Medical care is often required to manage other
health problems with which TS is associated.

10. Statistics
• Turner syndrome occurs in between one in 2000
and one in 5000 females at birth.
• All regions of the world and cultures are affected
about equally.
• Generally people with TS have a shorter life
expectancy, mostly due to heart problems and
diabetes.

11. Thank you for your attention