Is Down Syndrome Genetic: Translocation Down Syndrome

Is Down Syndrome Genetic

As of current, over 400,000 American citizens are living with Down Syndrome. Trisomy 21 is the most common form of the disorder, which makes up about 95% of all cases. This form of Down Syndrome is caused from the baby being born with an extra copy of the number 21 chromosome (total of three). The normal baby is born with 46 or 23 pairs of chromosomes. Twenty-two pairs are known as autosomes, while the 23rd pair is known as the sex chromosomes, which differ in a male and a female.

Translocation Down Syndrome makes up only 4% of all cases, which is caused from nearly the same thing as Trisomy except one of the three, number 21 chromosomes is attached to another chromosome, unlike Trisomy, where all three, 21 chromosomes are totally separate. Another form of Down Syndrome, which only makes up 1% of all cases in America is called Mosaic. In these cases, the extra copy of the 21 chromosome is only present in some of the human, body cells.

All of this can be very confusing for someone with no medical experience, but as nurses, you should be very familiar with chromosomes that make up the human body.

 

Down Syndrome Physical Characteristics

While there are three different forms of Down Syndrome, all the types have similar physical characteristics. Although some forms of Down Syndrome will be more severe than others, they all still bear the same physical traits. Some physical characteristics include;

-Short Neck & Shorter In Stature

-Small Hands, Feet, And Pinkie Finger

-Tongue, Which Normally Sticks Out Of The Mouth

-Flaccid Muscle Definition & Joint Hypermobility

-Poor Vision

-Hypothyroidism

These children also suffer from congenital heart defects, which most will require corrective surgery. The life expectancy of an individual with Down Syndrome has increased drastically over the last few years, due to antibiotics and the most advanced cardiac surgery techniques. Individuals can live up to the age of sixty or longer.

 

Psychiatric & Intellectual Disabilities

Many individuals with Down Syndrome have been diagnosed with mental disorders including ADHD, depression, anxiety, repetitive behaviors, and in rare cases auditory short term memory. There are many different community organizations that have recreational, social, and vocational programs and activities that can help these individuals adjust and accept their disorder.

Having a low IQ score is definitely very normal in children with Down Syndrome. It is important to keep these children involved in educational programs so they can reach their maximum potential. Only about one third of the Translocation Down Syndrome cases have been linked to heredity, which occurs when the father or the mother is a carrier of the disorder. If the mother is a carrier, the baby will run a higher risk of being born with Down Syndrome.