1. GENETIC DISORDER
• A genetic disorder is a health problem associated with
one or more abnormalities in the genome at birth or
after birth. Mutation in a single gene (monogenic) or
multiple genes (polygenic), or a chromosomal
abnormality gives rise to genetic disorders. Polygenic
disorders are the most common, and such mutations
occur spontaneously before embryonic development or
due to autosomal recessive and dominant inheritance.
2. CONGENITAL DISORDER
• Congenital disorders are structural or functional
abnormalities present before birth. Such disorders
result in disabilities that may be physical,
intellectual, or developmental and range from mild
to severe. Congenital disorders are of two types:
structural and functional disorders.
• Structural disorders are abnormalities with the
shape of the body or a part of the body.
• Functional disorders include metabolic and
degenerative disorders. Congenital disorders also
result from genetic and chromosomal disorders.
3. TRISOMY..?
• The presence of an extra chromosome in some or all
of the body’s cells. This results in a total of three
copies of that chromosome instead of the normal two
copies. For example, Down syndrome (trisomy 21) is
caused by having three copies of chromosome 21
instead of the usual two copies.
4. MONOSOMY .?
• The term “monosomy” is used to describe the
absence of one member of a pair of chromosomes.
Therefore, there are 45 chromosomes in each cell of
the body instead of the usual 46.
5. POLYSOMY..?
• The state of a cell nucleus in which a specific
chromosome is represented more than twice.
6. GENETIC DEFECTS
• Some chromosomal abnormalities occur when there is an extra
chromosome, while others occur when a section of a chromosome is
deleted or duplicated. Examples of chromosomal abnormalities include
• Down syndrome,
• Trisomy 18 :A genetic disorder caused by having an extra chromosome
18 in some or all of the body’s cells.
• Trisomy 13:also called Patau syndrome, is a chromosomal condition
associated with severe intellectual disability and physical abnormalities
• Klinefelter syndrome: is a genetic condition that results when a boy is
born with an extra copy of the X chromosome
7. CONT..
• Turner syndrome :a condition that affects only
females, results when one of the X chromosomes (sex
chromosomes) is missing or partially missing.
8. DOWN,S SYNDROME
Down syndrome is a condition in which a person has an extra
chromosome. Chromosomes are small “packages” of genes in the
body. They determine how a baby’s body forms and functions as it
grows during pregnancy and after birth. Typically, a baby is born
with 46 chromosomes. Babies with Down syndrome have an extra
copy of one of these chromosomes, chromosome 21. A medical
term for having an extra copy of a chromosome is ‘trisomy.’ Down
syndrome is also referred to as Trisomy 21. This extra copy changes
how the baby’s body and brain develop, which can cause both
mental and physical challenges for the baby.
9. • Some common physical features of Down syndrome include:
•
• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb.
10. TURNER SYNDROME
• Turner syndrome, a condition that affects only females, results
when one of the X chromosomes (sex chromosomes) is missing
or partially missing. Turner syndrome can cause a variety of
medical and developmental problems, including short height,
failure of the ovaries to develop and hear.
• Turner syndrome may be diagnosed before birth (prenatally),
during infancy or in early childhood. Occasionally, in females
with mild signs and symptoms of Turner syndrome, the diagnosis
is delayed until the teen or young adult years.t defects.
11. • Symptoms
• Signs and symptoms of Turner syndrome may vary
among girls and women with the disorder. For some
girls, the presence of Turner syndrome may not be
readily apparent, but in other girls, several physical
features are apparent early. Signs and symptoms can
be subtle, developing slowly over time, or significant,
such as heart defects.
12. KLINEFELTER SYNDROME
• Klinefelter syndrome is a genetic condition that results when a
boy is born with an extra copy of the X chromosome. Klinefelter
syndrome is a genetic condition affecting males, and it often isn’t
diagnosed until adulthood.
•
• Klinefelter syndrome may adversely affect testicular growth,
resulting in smaller than normal testicles, which can lead to lower
production of testosterone. The syndrome may also cause
reduced muscle mass, reduced body and facial hair, and
enlarged breast tissue. The effects of Klinefelter syndrome vary,
and not everyone has the same signs and symptoms.
13. • Symptoms
• Signs and symptoms of Klinefelter syndrome vary widely among males
with the disorder. Many boys with Klinefelter syndrome show few or
mild signs. The condition may go undiagnosed until adulthood or it
never be diagnosed. For others, the condition has a noticeable effect
growth or appearance.
•
• Signs and symptoms of Klinefelter syndrome also vary by age.
