Down Syndrome

Definition

The autosomal non-disjunction of chromosome pair no 21 or trisomy21 is called Down syndrome. such an individual will have one extra copy of the 21st chromosome. It means they have 47 chromosomes instead of 46 chromosomes.

This disease is considered the most common disease that is related to chromosomes in the United States. According to reports 1 baby out of 700 is born with this type of condition.

what is trisomy 21?

An extra copy of a chromosome is called trisomy 21. when a fetus has three copies instead of two chromosomes.

Causes of down syndrome

It is due to the non-disjunction of chromosome no-21 in which the 21st chromosome fails to separate and thus one gamete receives 24- chromosomes. if these gametes are fertilized by a normal gamete then the individual will have 47 chromosomes instead of 46 chromosomes.

Both men and women can pass the genetic translocation from down-syndrome onto their offsprings.

Advancing maternal age increases the incidence of Down syndrome.

Symptoms of Down syndrome

 Small mouth, short neck, Flate face and nose.

 Small ears, upward slanting eyes with small skin fold at the inner corner

 large proturding tongue

 Inner corner of the eye may be rounded instead of pointed.

 Hands are short

 Iris of the eye will have white spots

 Poor muscle tone

 Mentally retarded

 Excessive flexibility

 Average IQ is low

Vision problem

Treatment of down syndrome

Correct surgery for heart defects, stomach

Regular check-ups of ear infections, hearing loss, Obesity, hypothyroidism, visual impairments, and other medical conditions.

Down syndrome individuals should be supported by family.

Special programs for children with Down syndrome stimulation at an early age with appropriate sensory, motor, and cognitive activities.

Many other conditions are associated with Down syndrome Like,

Heart problems

Alzheimer’s disease.

Autism, in this case, a person faces difficulty in social skills and communication

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