3. WHAT IS TURNER’S SYNDROME
• Turner’s syndrome is a genetic condition
that only affects females
• This condition is caused by an abnormal
chromosome and affects about one in
every 2,500 baby girls, but is much more
common among pregnancies that do not
survive to term [miscarriages and
stillbirths]
• Turner’s syndrome was named after Dr
Henry turner the endocrinologist in year
1938
4. CAUSES OF TURNER SYNDROME
• Turner’s syndrome is typically caused by nondisjunction
• A pair of sex chromosome fails to separate during the formation of egg or
sperm so when an abnormal egg unites with a normal sperm to form an
embryo that embryo ends up missing one of the sex chromosome (X rather
than XX)
• "45X” meaning that an individual has 44 autosomes and a single X chromosome
8. HOW COMMON IS TURNER SYNDROME
• Turner syndrome affects 71000 females in
United states
• Most pregnancies that are affected by turner’s
syndrome results in miscarriages 10% of
miscarriages are caused by turner syndrome
• 1/2500 female births are related to turner
syndrome
9. DIAGNOSIS OF TURNER SYNDROME
• Turner syndrome may be suspected in pregnancy during an ultrasound test. This
can be confirmed by prenatal testing amniocentesis - to obtain cells from the
unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the
baby may be under the care of a specialist pediatrician immediately after birth.
• Diagnosis is confirmed by a blood test called a karyotype. This is used to analyse
the units that make up the child’s chromosomes.
• For a child with Turner syndrome, the earlier the diagnosis, the better the
prospects for treatment. Children who are shorter than normal are often seen by
a pediatric endocrinologist, who is a doctor specializing in treating children with
growth problems.
10. TREATMENT FOR TURNER’S SYNDROME
• Growth hormone injections are beneficial in some individuals with Turner
syndrome. Injections often begin in early childhood and may increase final
adult height by a few inches.
• Estrogen replacement therapy is usually started at the time of normal
puberty, around 12 years to start breast development
• Babies born with a heart murmur or narrowing of the aorta may need surgery
to correct the problem. A heart expert (cardiologist) will assess and follow up
any treatment necessary.
• Girls who have Turner syndrome are more likely to get middle ear infections.
Repeated infections may lead to hearing loss and should be evaluated by the
pediatrician. An ear, nose and throat specialist (ENT)
11. REFRENCES FOR TURNER’S SYNDROME
• Introduction of Turner’s syndrome
http://www.nhs.uk/conditions/turners syndrome/page/introduction.aspx
• diagnosis and treatment of Turners syndrome
http://www.medicinenet.com/turner-syndrome/article.html
• How common is turners syndrome
http://turnerssyndrome.org/learn-about-ts/fact-sheet
• Turner’s syndrome clinical features
http://www.norditropinhcp.com/turnersyndrome.aspx
• Monosomy X-turner’s syndrome45,X
http://www.meddean.luc.edu/lumen/med/genetics/disease/turner.html
12. Karyotype for turner's syndrome
http://www.net-infirmers.com/le-syndrome-de-turner-enquelques-mots
Causes for turner’s syndrome
http://learn.genetics.Utah.edu/content/disorders/chromosomal/turner/html
13. WHAT IS DOWN’S SYNDROME
• Dr. John Langdon Down described the
syndrome in 1866.
• Down syndrome is one of the first symptom
complexes associated with mental retardation
to be identified as a syndrome.
• Down syndrome is a congenital condition
caused by an extra chromosome. The presence
of an extra number 21 chromosome causes the
distinctive facial features, physical
characteristics and the cognitive impairments
seen in people with Down syndrome
14. • People with Down syndrome may have a variety of birth defects. About half
of all affected children are born with a heart defect. Digestive abnormalities,
such as a blockage of the intestine
• Individuals with Down syndrome have an increased risk of developing several
medical conditions. These include gastroesophageal reflux, which is a
backflow of acidic stomach contents into the esophagus
• Delayed development and behavioral problems are often reported in a
children with down's syndrome
15. CAUSES OF DOWN’S SYNDROME
• The most common form of Down syndrome is known as Trisomy 21, a
condition where individuals have 47 chromosomes in each cell instead of 46.
This is caused by an error in cell division called nondisjunction, which leaves a
sperm or egg cell with an extra copy of chromosome 21 before or at
conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88%
originating from nondisjunction of the mother's egg cell.
• 5% of Down syndrome cases are due to conditions called mosaicism and
translocation. Mosaic Down syndrome results when some cells in the body
are normal while others have Trisomy 21. Robertsonian translocation occurs
when part of chromosome 21 breaks off during cell division and attaches to
another chromosome (usually chromosome 14).
16.
17.
18. HOW COMMON IS DOWN’S SYNDROME
• There are three types of Down syndrome: trisomy 21 (nondisjunction)
accounts for 95% of cases, translocation accounts for about 4% and mosaicism
accounts for about 1%.
• One in every 691 babies in the United States is born with Down syndrome
• There are more than 400,000 people living with Down syndrome in the United
States. Down syndrome occurs in people of all races and economic levels. The
incidence of births of children with Down syndrome increases with the age of
the mother. But due to higher fertility rates in younger women, 80% of
children with Down syndrome are born to women under 35 years of age.
19. DIAGNOSIS FOR DOWN’S SYNDROME
• Down syndrome is diagnosed one of two ways, either during pregnancy or
shortly after birth. The diagnosis is always based on the presence of an extra
number 21 chromosome on a karyotype
• The diagnosis of Down's syndrome is usually made soon after birth because
of some subtle differences in the baby's appearance.
• If the doctor suspects that the baby has Down syndrome, a chromosome test
called a karyotype, will be ordered. It usually takes a few days to get the
results of this blood test. It is almost always a shock when a baby is
diagnosed with Down syndrome
20. TREATMENT FOR DOWN’S SYNDROME
• Providing support and treatment for a patient with Down syndrome is
meant to improve their quality of life.
• Medical conditions associated with Down syndrome, including those
affecting the heart or the gastrointestinal system, may require evaluation
and care, sometimes requiring surgery.
• As the patient ages, the care and support needed will depend upon the
intellectual ability and physical function achievable by the individual.
21. REFERENCES FOR DOWN’S SYNDROME
Introduction of down’s syndrome
http://downsyndrome.about.com/od/downsyndrome
http://ghr.nlm.nihgov/condition/down-syndrome
Causes of down’s syndrome
http://www.medicalnewstoday.com/articles/145554.php
Figure of trisomy 21
http://www.larasig.com/node/3645
Symptoms for down’s syndrome
http://www.rayur.com/chromosomal-disorder-down_syndrome-trisomy-21.html
22. REFERENCES
How common is down’s syndrome
http://www.ndss.org/down-syndrome/down-syndrome-facts/html
Diagnosis for down’s syndrome
http://downsyndrome.about.com/od/diagnosing/down’ssyndrome/a/diagnoss
iess
Treatment for down’s syndrome
http://www.medicinenet.com/down-syndrome_overview/page3.html
23. WHAT IS KLINEFELTER’S SYNDROME
• Klinefelter syndrome, also known as XXY syndrome, is a fairly common
genetic condition found in males only. Many boys with Klinefelter syndrome
have no signs or symptoms, and some don't even know they have it until
later in life
• Klinefelter syndrome typically causes a boy's testicles to grow at a slower
rate than those of other boys. It prevents testicles from producing normal
amounts of sperm and the hormone testosterone.
• Klinefelter syndrome is named after Dr. Henry Klinefelter, who first
described a group of symptoms found in some men with the extra X
chromosome. Even though all men with Klinefelter syndrome have the
extra X chromosome, not every XXY male has all of those symptoms.
24. CAUSES OF KLINEFELTER’S SYNDROME
• Men with Klinefelter’s syndrome have an extra X
chromosome.
• Of the 23 pairs of chromosomes, one pair is called
the sex chromosomes because they determine a
person’s sex. One sex chromosome is inherited
from the mother and the other from the father.
Mothers always pass on an X chromosome, but
fathers can pass on an X or a Y chromosome.
• The normal male chromosome arrangement is
46XY, but men with Klinefelter’s syndrome have
47XXY. The extra X chromosome can come from
either parent.
25.
26. In young boys with the condition, the following
problems may occur:
• difficulties with speech and reading
• delayed motor development
• reduced attention span
• poor muscle tone
• behavioral problems.
27. HOW COMMON IS KLINEFELTER’S SYNDROME
• Between 1 in 500 and 1 in 1,000 boys
are born with Klinefelter’s syndrome
28. DIAGNOSIS OF KLINEFELTER’S SYNDROME
• Diagnosis is confirmed using a blood test called a karyotype. This test checks
the number and features of the chromosomes in a sample of cells from blood.
• A blood test is also carried out to determine levels of testosterone, luteinizing
hormone (LH) and follicle stimulating hormone (FSH).
• Luteinizing hormone stimulates the production of testosterone. In many men
with Klinefelter’s syndrome, levels of lutenizing hormone are raised, but
testosterone levels are borderline or below normal. Follicle stimulating
hormone levels are also raised, which can be a sign of damage to the sperm-producing
tubes in the testes.
29. TREATMENT OF KLINEFELTER’S SYNDROME
• Any individual suffering from klinefelter's syndrome should be referred to
ENDOCRINOLOGIST
• Main treatment for Klinefelter's syndrome is with testosterone to boost the
low levels. Testosterone can help to:
Increase your strength and build a more muscular body type.
Increase facial and pubic hair growth.
Increase your libido (sex drive).
Enlarge your testes.
• If you have Klinefelter syndrome and you are considering having children, you
will need to see an infertility specialist.
30. REFERENCES FOR KLINEFELTER’S SYNDROME
• Introduction of klinefelter’s syndrome
Http://kidshealth.org/parent/medical/endocrine/klinefelter-syndrome.html
• Causes of klinefelter’s syndrome
Http://www.andrologyaustralia.org/reproductive-problems/klinefelters-syndrome/
html
• Karyotype of klinefelter’s syndrome
Http://rockyourchromosome.blogspot.in/2013/03/klinefelters-syndrome.
charachteristics.html
31. REFERENCES KLINEFELTER’S SYNDROME
• Symptoms of klinefelter’s syndrome
Http://www.andrologyaustralia.org/reproductive-problems/klinefelters-syndrome/
html
• Diagnosis of klinefelter’s syndrome
Http://www.andrologyaustralia.org/reproductive-problems/klinefelters-syndrome/
html
• How common is klinefelter’s syndrome
Http://www.patient.co.uk./health/klinefelter-syndrome#
• Treatment of klinefelter’s syndrome
Http://www.patient.co.uk./health/klinefelter-syndrome#
32. FINAL CONCLUSION
• Turner’s syndrome is genetic abnormality in which out of 46 chromosomes
there are 44 autosomes and a single X chromosome (X rather than XX)
• Down’s syndrome is also know as trisomy 21 in which individual has 47
chromosomes instead of 46
• Klinefelter’s syndrome is also known as XXY syndrome normal male
chromosome arrangement is 46XY, but men with Klinefelter’s syndrome have
47XXY.
