NAME : BALAGUHAN.
K
CLASS : I-BI (1)
SUBJECT : BIOLOGY
ROLL NO : 11407
TOPIC : X-LINKED
DISORDER
CHROMOSOMAL DISORDER
INTRODUCTION :
Chromosomal disorders are caused by an abnormality in an
individual's complement of chromosomes. The normal situation is to possess
23 pairs of chromosomes, of which one pair are sex chromosomes (two X
chromosomes in females and an X and a Y in males).
MECHANISM :
A chromosomal abnormality, or chromosomal aberration, is a disorder
characterized by a morphological or numerical alteration in single or multiple
chromosomes, affecting autosomes, sex chromosomes, or both
DOWN SYNDROME :
Down syndrome is a genetic disorder caused when abnormal cell division
results in an extra full or partial copy of chromosome 21. This extra genetic
material causes the developmental changes and physical features of Down
syndrome.
Down syndrome varies in severity among individuals, causing lifelong
intellectual disability and developmental delays. It's the most common genetic
chromosomal disorder and cause of learning disabilities in children. It also
commonly causes other medical abnormalities, including heart and gastrointestinal
disorders.
Most children with Down syndrome have mild to moderate cognitive
impairment. Language is delayed, and both short and long-term memory is
affected.
SIGNS & SYMPTOMS:
Children and adults with Down syndrome have distinct facial features. Though
not all people with Down syndrome have the same features, some of the more
common features include:
•Flattened face
•Small head
•Short neck
•Protruding tongue
•Upward slanting eye lids (palpebral fissures)
•Unusually shaped or small ears
•Poor muscle tone
•Broad, short hands with a single crease in the palm
•Relatively short fingers and small hands and feet
•Excessive flexibility
•Tiny white spots on the colored part (iris) of the eye called Brushfield's spots
•Short height
DIAGNOSIS:
•Chorionic villus sampling (CVS). In CVS, cells are taken from
the placenta and used to analyze the fetal chromosomes.
This test is typically performed in the first trimester, between
10 and 13 weeks of pregnancy. The risk of pregnancy loss
(miscarriage) from a CVS is very low.
•Amniocentesis. A sample of the amniotic fluid surrounding
the fetus is withdrawn through a needle inserted into the
mother's uterus. This sample is then used to analyze the
chromosomes of the fetus. Doctors usually perform this
test in the second trimester, after 15 weeks of pregnancy.
This test also carries a very low risk of miscarriage.
TREATMENTS:
A variety of therapies can be used in early intervention programs and
throughout a person's life to promote the greatest possible development,
independence, and productivity. Some of these therapies are listed below.
• Physical therapy includes activities and exercises that help build motor skills,
increase muscle strength, and improve posture and balance.
• Speech-language therapy can help children
with Down syndrome improve their communication
skills and use language more effectively.
• Occupational therapy helps find ways to adjust
everyday tasks and conditions to match a person’s
needs and abilities.
• Emotional and behavioral therapies work to find useful responses to both
desirable and undesirable behaviors.
PREVENTION:
There's no way to prevent Down syndrome. If you're at high risk of
having a child with Down syndrome or you already have one child with Down
syndrome, you may want to consult a genetic counselor before becoming
pregnant.
A genetic counselor can help you understand your chances of having
a child with Down syndrome. He or she can also explain the prenatal tests that
are available and help explain the pros and cons of testing.
KLINE FILTER 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.
Most men with Klinefelter syndrome
Produce little or no sperm, but assisted reproductive
Procedures may make it possible for some men with
Klinefelter syndrome to father children.
SIGNS & SYMPTOMS:
Signs and symptoms of Klinefelter syndrome vary widely among males with the
disorder. Many boys with Klinefelter syndrome show few or only mild signs. The
condition may go undiagnosed until adulthood or it may never be diagnosed. For
others, the condition has a noticeable effect on growth or appearance.
Babies
•Weak muscles
•Slow motor development — taking longer than average to sit up, crawl and walk
•Delay in speaking
•Problems at birth, such as testicles that haven't descended into the scrotum
Boys 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 muscle and less facial and body hair compared with
other teens
•Small, firm testicles
•Small penis
•Enlarged breast tissue (gynecomastia)
•Weak bones
•Low energy levels
•Tendency to be shy and sensitive
•Difficulty expressing thoughts and feelings or socializing
•Problems with reading, writing, spelling or math
Men
•Low sperm count or no sperm
•Small testicles and penis
•Low sex drive
•Taller than average height
•Weak bones
•Decreased facial and body hair
•Less muscular compared with other men
•Enlarged breast tissue
•Increased belly fat
DIAGNOSIS:
Your doctor will likely do a thorough physical exam and ask detailed
questions about symptoms and health. This may include examining the genital
area and chest, performing tests to check reflexes, and assessing development
and functioning.
The main tests used to diagnose Klinefelter syndrome are:
•Hormone testing. Blood or urine samples can reveal abnormal hormone levels
that are a sign of Klinefelter syndrome.
•Chromosome analysis. Also called karyotype analysis, this test is used to
confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to
check the shape and number of chromosomes.
TREATMENTS:
If you or your son is diagnosed with Klinefelter syndrome, your health
care team may include a doctor who specializes in diagnosing and treating
disorders involving the body's glands and hormones (endocrinologist), a speech
therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive
medicine or infertility specialist, and a counselor or psychologist.
Although there's no way to repair the sex chromosome changes due to
Klinefelter syndrome, treatments can help minimize its effects. The earlier a
diagnosis is made and treatment is started, the greater the benefits. But it's never
too late to get help.
• Testosterone replacement therapy
• Breast tissue removal
• Speech and physical therapy
• Educational evaluation and support
• Fertility treatment
• Psychological counseling
PREVENTION:
Mild symptoms often don’t need to be treated. Males with more obvious
symptoms are often encouraged to start treatment as early as possible, preferably
during puberty. Starting treatment early can prevent some of the symptoms. One
of the main treatments is testosterone replacement therapy.
Taking testosterone around the time of puberty will trigger the development of
characteristics that normally happen at puberty for people who are born
biologically male, such as:
•a deeper voice
•hair growth on the face and body
•increased muscle strength
•penis growth
•bone strengthening
TURNER’S 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 heart defects.
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.
Girls and women with Turner syndrome
need ongoing medical care from a variety of
specialists. Regular checkups and appropriate
care can help most girls and women lead healthy,
independent lives.
SIGNS & 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.
Before birth
•Large fluid collection on the back of the neck or other abnormal fluid collections
(edema)
•Heart abnormalities
•Abnormal kidneys
At birth or during infancy
•Wide or weblike neck
•Low-set ears
•Broad chest with widely spaced nipples
•High, narrow roof of the mouth (palate)
•Arms that turn outward at the elbows
•Fingernails and toenails that are narrow and turned upward
•Swelling of the hands and feet, especially at birth
•Slightly smaller than average height at birth
•Slowed growth
•Cardiac defects
•Low hairline at the back of the head
•Receding or small lower jaw
•Short fingers and toes
In childhood, teens and adulthood
•Slowed growth
•No growth spurts at expected times in childhood
•Adult height significantly less than might be expected for a female member of the
family
•Failure to begin sexual changes expected during puberty
•Sexual development that "stalls" during teenage years
•Early end to menstrual cycles not due to pregnancy
•For most females with Turner syndrome, inability to conceive a child without
fertility treatment
DIAGNOSIS:
Karyotyping is a test that involves analysing the 23 pairs of chromosomes.
It's often used when Turner syndrome is suspected.
The test can either be carried out while the baby is inside the womb – by taking a
sample of amniotic fluid (amniocentesis) – or after birth by taking a sample of the
baby's blood.
TREATMENT :
•a paediatric endocrinologist – a specialist in conditions that affect the hormones of
children and teenagers
•a psychologist – a specialist in managing emotional, behavioral and educational
problems
•a gynaecologist – a specialist in treating conditions that affect the female
reproductive system
•a geneticist – a specialist in genetic and inherited conditions
•a nephrologist – a specialist in kidney conditions who helps manage high blood
pressure
•an ear, nose and throat (ENT) specialist – who monitors ear conditions and
hearing alongside an audiologist
•an adult endocrinologist
•a cardiologist – a heart specialist
•an obstetrician – a specialist in pregnancy and birth
PREVENTION :
Researchers don’t know how to prevent the chromosome error that
causes this disorder. In general, a woman who has a child with Turner syndrome
is not at increased risk of having another baby with the condition. TS is often not
inherited in families. It happens randomly.
CONCLUSION :
Detection of chromosomal abnormalities in spontaneous abortion
materials is very important to clarify the causes of loss of pregnancy
Detection of structural chromosomal abnormalities in the cases and their carrier
parents can provide proper genetic counseling to these families.
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