Turner syndrome is a genetic condition that affects females, caused by missing or abnormal X chromosome. It can cause short stature, lack of sexual development at puberty, infertility, and other issues. Klinefelter syndrome is a condition in males caused by an extra X chromosome, resulting in enlarged breasts and reduced facial/body hair. Fragile X syndrome is caused by a gene on the X chromosome shutting down, leading to intellectual disabilities, large ears, joint issues, and other traits.

1. TURNER SYNDROME
 Is also known as
"Gonadal dysgenesis”
 Is a chromosome
abnormality found in
females in which
secondary sex
characteristics are
developed only with the
administration of female
hormones. Any
abnormality in the
internal reproductive
organs cause permanent
sterility.

2. HISTORY
• Named after Henry
Turner, the
endocrinologist who
described this
condition in 1938
• He described 7 patients
between the ages of
15 and 23, who were
referred to him for
dwarfism and lack of
sexual development

3. TURNER SYNDROME
• Is a genetic condition
that only affects
females
• This condition caused
by an abnormal
chromosome and
affects about one in
every 2,500 baby girls

4. HOW DOES IT OCCUR?
• Turner syndrome is
typically caused by
nondisjunction
• A pair of sex
chromosomes fails to
separate during the
formation of an egg (or
sperm)

5. SIGNS AND SYMPTOMS
Possible symptoms in young
infants:
• Swollen hands and feet
• Wide and webbed neck
and a low or indistinct
hairline
Older females:
• absent or incomplete
development at puberty
• A broad chest and
widely spaced nipples

6. SIGNS AND SYMPTOMS
Older females:
• Drooping eyelids, dry
eyes
• Infertility
• No periods
• Short height
• Vaginal dryness
• Arms that turn out
slightly at the elbow

7. TREATMENT
• Human growth hormone
• Oestrogen replacement
therapy
• Progesterone
replacement therapy

8. KLINEFELTER’S SYNDROME
 is a form of
chromosome
abnormality
characterized by
feminine physical
characteristics like
breast development
and rounded broad,
hipped figure.

9. KLINEFELTER SYNDROME
Individuals with
Klinefelter syndrome
have at least two X
chromosomes and at
least one Y
chromosome
Is also known as 47, XXY
and XXY syndrome

10. KLINEFELTER SYNDROME
Because of the extra
chromosome, individuals
with the condition are
usually referred to as :
47,xxy=xxy males
This chromosome
constitution (karyotype)
exist in roughly between
1:500 to 1:1000 live male
births

11. CAUSE
Meiosis I (gametogenesis)
Nondisjunction occurs
when homologous
chromosomes (X and Y
sex chromosomes) fail
to separate, producing
a sperm with an X and
Y chromosome.

12. SIGNS AND SYMPTOMS
Babies:
Weak muscles
Slow motor
development
Quiet, docile
personality
Problems at birth, such
as testicles that
haven’t descended
into the scrotum

13. SIGNS AND SYMPTOMS
Boy and Teenagers
• Taller than average stature
• Longer legs, shorter torso
and broader hips
compared with other boys
• Absent, delayed or
incomplete puberty
• After puberty , less
muscular bodies and less
facial and body hair
compared with other teens
• Small and firm testicles
• Small penis
• Enlarged breast tissue
(gynecomastia)
• Weak bones
• Low energy levels
• Shyness
• Difficulty expressing
feelings or socializing
• Problems with reading,
writing, spelling or math
• Attention problems

14. SIGNS AND SYMPTOMS
Boy Teenagers

15. SIGNS AND SYMPTOMS
Men
• Weak bones
• Decreased facial and
body hair
• Enlarged breast tissue
• Decreased sex drive or
sexual problems
• Infertility
• Small testicles and penis
• Taller than average
stature

16. DIAGNOSING KLINEFELTER SYNDROME
• The greatest chances to
make Klinefelters’s
diagnosing are in the
following times of life:
Before or shortly after
birth
Early childhood
Adolescence
Adulthood

17. TESTS
Chromosome analysis
Also called karyotyping
analysis, this test is used to
confirm a diagnosis of
Klinefelter syndrome.
Hormone testing
blood or urine samples
can reveal abnormal
hormone levels that are
the sign of Klinefelter
syndrome. The doctor
may take samples to be
evaluated in the lab.

18. TESTS
Prenatal testing:
Amniocentesis
• In amniocentesis a
sample of the fluid
surrounding the fetus
is withdrawn
Chorionic villus
sampling
• To determine
chromosomal or
genetic disorders

19. TREATMENT
Testosterone
• Can normalize body
proportions and
promote
development of
normal secondary sex
characteristics
In vitro fertilization
• Is a process by which
an egg is fertilised by
sperm outside the
body

20. FRAGILE X SYNDROME
It’s a single gene in the
brain cell that shuts
down that causes
Fragile X Syndrome.

21. SIGNS AND SYMPTOMS
Prominent characteristics of
the syndrome
Large protruding ears
(one or both)
Long face (vertically
maxillary excess)
High-arched palate
Hyperextensible finger
joints

22. SIGNS AND SYMPTOMS
Hyperextensible
(“Double-jointed”)
thumbs
Flat fleet, soft skin
Post pubescent
macroorchidism (large
testes in men after
puberty
Hypotonia (low muscle
tone)
Intellectual disability
Single palm crease
(crease goes across
entire palm)

23. TREATMENT
• Research has not found
a cure yet but there is
many therapies
available to help the
person with fragile x
syndrome
Special education
Speech and language
therapy
Occupational therapy
medication

24. PERVASIVE DEVELOPMENTAL
DISORDERS
Is a collection of
disorders
characterized by gross
deficits in many areas
of cognitive,
emotional, and social
development. These
results from severe and
pervasive impairment
of social interaction
and communication
skills.

25. SCHIZOPHRENIA
• Pervasive
developmental
disorder have been
often been confused
with schizophrenia a
serious disorder
characterized by
hallucinations,
delusions, and other
kinds of thought of
disorder not found in
the pervasive
developmental
disorder.

26. THANK YOU FOR LISTENING
AND
GOD BLESS

27. EXCEPTIONAL DEVELOPMENT
• Every child is unique to
himself, in personality traits,
in cognitive abilities, in
physical stature, in
emotional stability and
others. Among children,
these differences are highly
noticeable.
• Even in the aspect of
learning some children are
fast learner, those gifted
with exceptional intellectual
capabilities and some are
slow, those who function at
significantly lower
intellectual levels.

28. THE INTELLECTUALLY GIFTED
• Think in different ways
• Think about their work in more
than one way
• Talented at solving problems
with what is around them
• Are very aware of events
going on around them
• Enjoy observing their
surroundings
• Enjoy observing their
surroundings
• Are risk takers
• Are not boastful about
accomplishments
• Are motivated to learn
through own
accomplishments

29. CHILDREN WITH INTELLECTUAL
DEFICITS
Down Syndrome (cause)
• Down syndrome results
when abnormal cell
division involving
chromosome 21 occurs.
These cell division
abnormalities result in
extra genetic material
from chromosome 21,
which is responsible for
the characteristic
features and
developmental problems
of Down syndrome.

30. DOWN SYNDROME FEATURES
 Brachycephaly (short
skull front-to back)
 Excess nuchal (back of
neck) skin
 Hypoplastic
(underdeveloped)
midface
 Upslanting palpebral
fissures (eyelids)
 Small ears w/ over-
folded helices

31. DOWN SYNDROME FEATURES
• 5th finger clinodactyly
(incurving)
• Wide gap between 1st
and 2nd toes
• Single transverse
palmar crease(s) (40%)
• Heart defect (45%)
• Fine, soft hair

32. TESTS
Prenatal testing:
Amniocentesis
• In amniocentesis a
sample of the fluid
surrounding the fetus
is withdrawn
Chorionic villus
sampling
• To determine
chromosomal or
genetic disorders

33. TREATMENT
Physical therapy
Speech and language
therapy
Occupational therapy