Turner syndrome is a genetic abnormality that affects females and occurs in approximately 1 in 2,000 live births. It results from partial or complete absence of the second X chromosome due to nondisjunction of chromosomes from the father. Clinical features include swelling of the neck and hands, congenital heart defects, short stature, and underdeveloped or absent female sex characteristics. Diagnosis is made through prenatal testing or by analyzing the chromosomes after birth. Treatment focuses on managing symptoms.

2. It is a genetic abnormality which
occurs as a result of a complete
or partial monosomy of the X
chromosome.
Affects females
Incidence-1 in 2000 live births

3. INHERITANCE
Functional chromosome is
from the mother and
nondisjunction of
chromosomes in the father
leads to monosomy of X
chromosome.

4. Unpaired X chromosome at the lower right

5. 57%-entire X chromosome is
absent
14%-structural abnormalities
of X chromosomes
29%-mosaics

6. Isochromosomes of the long
arm with loss of short arm
Ring chromosomes
Deletion of a portion of long or
short arm.

7. CLINICAL FEATURES
Swelling on the dorsum of hand
and neck
Cystic hygroma
Congenital heart disease
Left sided heart failure
Coarctation of the aorta

8. Bicuspid aortic valve
Shield shaped chest with widely
spaced nipples.
Failure to develop normal
secondary sex characters
Infantile genitalia
Poor breast development
Less pubic hair

9. Hypothyroidism
Rudimentary ovaries-streak
ovaries
Amenorrhoea
Mentally stable but presents with
non verbal learning disability
Cubitus valgus
Micrognathia- small jaw

10. Low posterior hairline
Low set ears
Multiple pigmented naevi
Obesity

13. LYMPHEDEMA IN A NEW BORN WITH TURNERS
SYNDROME

14. DIAGNOSIS
• Pre natal: amniocentesis & chorionic villi
sampling.
:abnormal ultrasound
• Post natal:karyotyping
TREATMENT
symptomatic

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