Down syndrome is a genetic disorder caused when abnormal cell division results in

extra genetic material from chromosome 21. This genetic disorder, which varies in
severity, causes lifelong intellectual disability and developmental delays, and in some
people it causes health problems.
Down syndrome is the most common genetic chromosomal disorder and cause of
learning disabilities in children.
Better understanding of Down syndrome and early interventions can greatly increase
the quality of life for children and adults with this disorder and help them live fulfilling
lives.
Karyotype:

Characteristics:

1. Up Slanted Palpebral Fissures

2. Flat Profile
3. Protuberant Tongue

4. Single Palmar Crease

5. Hypotonia
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 common genetic condition
affecting males.
Klinefelter syndrome adversely affects testicular growth, and this can result in smaller
than normal testicles. This can lead to lower production of the sex hormone
testosterone. Klinefelter 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 with it develops these signs and symptoms.
Klinefelter syndrome often isn't diagnosed until adulthood. 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.
Karyotype:

Characteristic:
Others have sparse body hair, enlarged breasts, and wide hips. In almost all men the
testicles remain small. In some men the penis does not reach adult size. Their voices
may not be as deep. They usually cannot father children. But they can have a

normal sex life. Some boys with Klinefelter syndrome have language and learning
problems.

Cri du chat syndrome occurs when a piece of chromosomal material ismissing from a p
articular region on chromosome 5. The disorder is also calledcat cry syndrome or chrom
osome deletion 5p syndrome. Individuals with thissyndrome have unusual facial feature
s, poor muscle tone (hypotonia), smallhead size (microcephaly), and mental retardation.
A classic feature of thesyndrome is the cat-like cry made by infants with this disorder.
Karyotype:

Characteristics:
Major identifying characteristics
Monotone, weak, cat-like cry
Small head (microcephally)
High palate
Round face
Small receding chin (micrognathia)
Widely spaced eyes (hypertelorism)
Low set ears
Low broad nasal ridge
Folds of skin over the upper eyelid (epicanthic folds)
Distinctive palmar creases (creases on the palms of the hands)
feeding problems because of difficulty swallowing and sucking,
low birth weight and poor growth

Turner syndrome, a condition that affects only girls and women, results when a sex
chromosome (the X chromosome) is missing or partially missing. Turner syndrome can
cause a variety of medical and developmental problems, including short height, failure
to start puberty, infertility, heart defects, certain learning disabilities and social
adjustment problems.
Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early
childhood. Occasionally the diagnosis is delayed until the teen or young adult years in
those who have mild signs and symptoms of Turner syndrome.
Nearly all 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 relatively healthy, independent lives.
Karyotype:

Characteristics:

short stature and non-functioning ovaries which causes infertility,

some women may also have extra skin on the neck (webbed neck),

puffiness or swelling (lymphedema) of the hands and feet,

skeletal abnormalities,

heart defects,

high blood pressure,

and kidney problems.

Tay-Sachs disease is a rare disorder passed from parents to child. In the most common
form, a baby about 6 months old will begin to show symptoms.
Tay-Sachs disease results when an enzyme that helps break down fatty substances is
absent. These fatty substances build up to toxic levels in the child's brain and affect the
nerve cells. As the disease progresses, the child's body loses function, leading to
blindness, deafness, paralysis and death.
Karyotype:

Characteristic:
Lysosomal storage disease that in its severe form leads to loss of motor skills beginning
at three to six months of age that progresses to blindness, seizures and total
incapacitation and death by 4 years of age. A milder disease with later onset and slower
progression is seen in affected adults. Adult-onset Tay-Sachs is associated with variable
neurological findings including: progressive dystonia, spinocerebellar degeneration,
motor neuron disease and bipolar form of psychosis.