Non disjunction is type of failure of homologous chromosomes to separate overall during cell

division.
Diseases of non disjunction chromosomes
1. turner syndrome:
it is a chromosomal condition which mostly occurs in females.
Genetics:
it is mostly occurs in females showing short stature ,an loss of ovarian function. The ovaries
develop first but with the age the ovarian tissues degenerates.
Symptoms
● Short persons height
● Infertility
● webbed neck
● heart defects
● swelling of skin and feet
● skeletal abnormalities

Behavior
Children with Turner syndrome are at increased risk for mental deficincies and behavioral
problems. Although cognitive skills are similar to those found in children with nonverbal learning
disabilities . Individuals are at increased risks of learning problems and social communication. some
of them also suffer from psycho social problems. Girls with an absent sex chromosomes having
problem of inadequate social relationship.
Causes
Most people are born with two sex chromosomes. Boys inherit the X chromosome from their
mothers and the Y chromosome from their fathers. Girls inherit one X chromosome from each
parent. In girls who have Turner syndrome, one copy of the X chromosome is missing, partially
missing or altered.
monosomy. The complete absence of an X chromosome generally occurs because of an error in the
father's sperm or in the mother's egg. This results in every cell in the body having only one X
chromosome.
Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development.
This results in some cells in the body having two complete copies of the X chromosome. Other cells
have only one copy of the X chromosome.
X chromosome abnormalities. Abnormal or missing parts of one of the X chromosomes can occur.
Cells have one complete and one altered copy. This error can occur in the sperm or egg with all
cells having one complete and one altered copy. Or the error can occur in cell division in early fetal
development so that only some cells contain the abnormal or missing parts of one of the X
chromosomes (mosaicism).
Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one
copy of the X chromosome and other cells have one copy of the X chromosome and some Y
chromosome material. These individuals develop biologically as female, but the presence of Y
chromosome material increases the risk of developing a type of cancer called gonado blastoma.
Treatment:
Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms.
These include
 • Human growth hormone. If given in early childhood, hormone injections can often
increase adult height by a few inches.
• Estrogen replacement therapy (ERT). Estrogen replacement therapy can help start the
secondary sexual development that normally begins at puberty (around age 12). This
includes breast development and the development of wider hips.
Example:
2. EDWARD SYNDROME:
Genetics
Edwards Syndrome is a genetic disorder caused by the presence of all or part of an extra 18th
chromosome. The majority of people with the syndrome die during the fetal stage; infants who
survive experience serious defects and commonly live for short periods of time. Edwards' syndrome
is associated with a broad spectrum of abnormalities which consist of greater than one-hundred and
thirty discrete defects involving the brain, heart, cranio facial structures, kidneys and stomach.
Causes of Edward's Syndrome
Cells in the human body contain twenty-three pairs of chromosomes that are inherited from the
person's parents. In human reproductive cells, ovum cells in women and sperm cells in men each
have twenty-three individual chromosomes, referred to as, 'XX,' in women and, 'XY,' in men and
numbered one through twenty-two. The extra material from chromosome eighteen, obtained after
the egg is fertilized, is responsible for causing Edward's syndrome.
Symptoms:
• low birth weight
• a small, and short head
• a small jaw and mouth
• long fingers that overlap, with underdeveloped thumbs and clenched fists
• low-set ears
• smooth feet with rounded soles
• a cleft lip and cleft palate
• an exomphalos (where the intestines are held in a sac outside the tummy)
Babies with Edwards' syndrome also typically have:
• heart and kidney problems
• feeding problems – leading to poor growth
• breathing problems
• hernias in the wall of their stomach (where internal tissues push through a weakness in the
muscle wall)
• bone abnormalities – such as a curved spine
• frequent infections of the lungs and urinary system
• a severe learning disability
Behavior:
A number of structural anomalies were observed:
• the classic hand deformity
 • extended legs
• diamond-shaped head
• open mouth and a severe cardiac abnormality.
A number of distinctive behavior patterns were observed: vertical eye movements, longitudinal
rotation of the trunk, rotation of hands, tremor of extremities and pulsatile body movements, which
are not usually seen in the normal fetus.
Treatment
The abnormalities associated with Edwards syndrome are by and large so severe that most of the
babies born die within the first year. Those who survive will have several serious medical and
developmental issues. Though there is no cure for the condition, a baby with health and growth
issues will need treatment and continuous care from varied specialists just to thrive.
3. klienfilter
Genetics
klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from
two or more X chromosomes in males.
Symptoms:
• Weak muscles
• Slow motor development — taking longer than average to sit up, crawl and walk
• Delay in speaking
• Quiet, docile personality
• Problems at birth, such as testicles that haven't descended into the scrotum
• 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

• Enlarged breast tissue (gynecomastia)

Causes:
Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an
extra sex chromosome. It isn't an inherited condition.Humans have 46 chromosomes, including two
sex chromosomes that determine a person's sex. Females have two X sex chromosomes (XX).
Males have an X and a Y sex chromosome (XY).
Klinefelter syndrome can be caused by:
• One extra copy of the X chromosome in each cell (XXY), the most common cause
• An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer
symptoms
 • More than one extra copy of the X chromosome, which is rare and results in a severe form
Extra copies of genes on the X chromosome can interfere with male sexual development and
fertility.
Behavioral
Many of the professionals and methods for treating learning and language symptoms of the XXY
condition are similar to or the same as the ones used to address social and behavioral symptoms.
For instance, boys with KS may need help with social skills and interacting in groups. Occupational
or behavioral therapists might be able to assist with these skills. Some school districts and health
centers might also offer these types of skill-building programs or classes.
In adolescence, symptoms such as lack of body hair could make XXY males uncomfortable in
school or other social settings, and this discomfort can lead to depression, substance abuse, and
behavioral problems or "acting out." They might also have questions about their masculinity or
gender identity. In these instances, consulting a psychologist, counselor, or psychiatrist may be
helpful.
Treatment
Testosterone replacement therapy. Starting at the time of the usual onset of puberty, testosterone
replacement can be given to help stimulate changes that normally occur at puberty, such as
developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis
size. Testosterone therapy can also improve bone density and reduce the risk of fractures. It will not
result in testicle enlargement or improve infertility.
Breast tissue removal. In males who develop enlarged breasts, excess breast tissue can be removed
by a plastic surgeon, leaving a more normal-looking chest.
Speech and physical therapy. These treatments can help boys with Klinefelter syndrome
overcome problems with speech, language and muscle weakness.
Educational evaluation and support. Some boys with Klinefelter syndrome have trouble learning
and socializing and can benefit from extra assistance. Talk to your child's teacher, school counselor
or school nurse about what kind of support might help.
Fertility treatment. Most men with Klinefelter syndrome are unable to father children because few
or no sperm are produced in the testicles. For some men with minimal sperm production, a
procedure called intracytoplasmic sperm injection () may help. During , sperm is removed from the
testicle with a biopsy needle and injected directly into the egg.
Psychological counseling. Having Klinefelter syndrome can be a challenge, especially during
puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A
family therapist, counselor or psychologist can help work through the emotional issues.
4.DOWN SYNDROME
Genetics
Down syndrome can affect a person's cognitive ability and physical growth, cause mild to moderate
developmental issues, and present a higher risk of some health problems.
Symptoms
• eyes that slant upward, have oblique fissures, have epicanthic skin folds on the inner corner,
and have white spots on the iris
• low muscle tone
• small stature and a short neck
• a flat nasal bridge
• single, deep creases across the center of the palms
• a protruding tongue
• a large space between large and second toe
• a single flexion furrow of the fifth finger

Causes:
All cells in the body contain genes that are grouped along chromosomes in the cell nucleus. There
are normally 46 chromosomes in each cell 23 inherited from the mother and 23 from the father.
When some or all of a person's cells have an extra full or partial copy of chromosome 21, Down
syndrome occurs.
Treatment:
There is no specific treatment for Down syndrome. People who have the condition will receive care
for any health problems, as other people do. However, healthcare professionals may recommend
additional health screening for issues common to the condition. Early intervention can help a person
maximize their potential and prepare them to take up an active role in the community. Physicians,
special educators, speech therapists, occupational therapists, and physical therapists, as well as
social workers, can all help. The National Institute for Child Health and Human Development urge
all specialists to provide stimulation and encouragement. Children with specific learning and
development difficulties may be eligible for educational support, either in a mainstream or
specialized school. In recent years, the tendency has been to attend mainstream schools, often with
additional support to help them integrate and progress. Some children will make use of an
Individualized Education Program (IEP), which various specialists will support.