Downs Syndrome, Turners and Klinefelters Syndromes

Downs Syndrome:

Down syndrome may be a genetic disorder, that ends up in numerous physical and mental disabilities. it’s because of the presence of an additional body 21 conjointly called trisomy of chromosome 21. Trisomy is one of the leading causes of genetic disorders around the world. it’s named once the medico Langdon Down, who 1st ascertained this condition.

Down Syndrome Causes

Down syndrome is a chromosomal disorder. It is due to aneuploidy of the autosome. There is one extra chromosome 21 or part of the chromosome present in all the cells or some cells.

The occurrence of Down syndrome is 1:800 live births. The major risk factor is the age of the mother. Most of the trisomy cases occur in the mother having aged more than 35.

Down syndrome is caused due to abnormal cell division.

During mitotic and meiotic cell division the chromosome pair separate so that each cell gets a copy of each chromosome. In down syndrome, the chromosomes are not able to separate, giving rise to cells with an unequal number of chromosomes.  This phenomenon is called nondisjunction.

Nondisjunction occurs when the chromosome separates in anaphase before all kinetochores of the replicated chromosomes attach to microtubules of opposite poles during metaphase. This results in one daughter cell having one less chromosome and another having an extra chromosome.

Down Syndrome Symptoms

People with Down syndrome are born with many abnormalities. Physical and mental disabilities are identified. They have poor immunity and are prone to many diseases. They reach developmental milestones at a later age than normal. Support congenital heart disease, thyroid disease, sleep apnea, gastrointestinal disorders. They are more prone to diseases like leukemia and Alzheimer’s.

The main Down syndrome symptoms are:

1. Short stature and stunted (little) growth.
2. Fold of the skin above the eye and slanted eyes.
3. Protruding furrowed tongue and flattened nose.
4. Mental retardation as well as Cardiac deformities.
5. Single transverse palm crease, the hand is broad and short.
6. Poor muscle tone, excessive flexibility.
7. Small head, short neck, and abnormal teeth.
8. Slow down language development.

Down Syndrome Diagnosis

Children having Down syndrome can be diagnosed or treated before or after their birth. 

Down syndrome can be diagnosed using the amniocentesis technique. In amniocentesis, the amniotic fluid is removed with the help of a needle and the dividing cells are karyotyped in the laboratory. The cells of the amniotic fluid have the same genetic content as the fetus. The karyotype is examined to detect chromosomal abnormalities. If the karyotype is abnormal, the fetus is aborted.

Turner Syndrome

Turner syndrome is defined as a condition that affects only females that result when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome causes a range of medical and developmental problems that include short height, heart defects, and failure of the ovaries to develop.

Turner Syndrome Diagnosis

Turner syndrome could also be diagnosed before birth (prenatally), throughout infancy, or in early childhood. Occasionally, in females with delicate signs and symptoms of Turner syndrome, the identification is delayed till the teenager or young adult years. 

Women and girls with Turner syndrome would like current treatment from a spread of specialists. Regular checkups and applicable care will facilitate most ladies and women to lead healthy, freelance lives.

Turner Syndrome Symptoms

The main symptoms of Turner syndrome include:

1. Common facial features such as drooping eyelids, a narrow palate, small jaws, and protruding, low-set earlobes. 
2. Growth is irregular, with no regular growth spurts, and puberty is delayed.
3. They may find it difficult to communicate nonverbally and understand the emotions of others. 
4. Aorta and other abnormalities related to the heart, liver, and kidneys.
5. Hypothyroidism and hypertension are common.
6. Inadequate estrogen leads to the osteoporosis. 
7. Chronic middle ear infection leads to hearing loss.

Klinefelter Syndrome

Klinefelter syndrome is caused when a male baby is born with more than needed or more X chromosomes. This syndrome is rare and found in 1(one) out of 1000 males. Klinefelter syndrome results in the formation of sperm or the egg. People having this syndrome are prone to tremors, autoimmune disorders, and osteoporosis.

Symptoms

Klinefelter syndrome manifests itself in many ways in males. The symptoms of Klinefelter syndrome in a large number of boys are mild. It is possible that the disease will go undiagnosed or will not be treated until adulthood. Others notice a change in their appearance or growth as a result of the condition. Klinefelter syndrome signs and symptoms are differed by age.

Conclusion

Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence, and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases, endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition.