Tay Sachs

Tay sachs is inherited meta bolic disorder in which certain lipids accumulative in the brain, causing spasticity and death in childhood.  The average age of diagnosis is 3-10 months of age. A blood test is used to detect tay sachs. Tay sachs is located on chromosome 15. Tay sachs is a autosomal recessive disease. Some of the symptoms are slow growth, seizures, deafness, and blindness.

A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It usually is diagnosed at birth or shortly after birth. It is tested by theses 3: Amniocentesis, Chronic Villus Sampling (CVS), and Percutaneous Umbilical Blood Sampling (PUBS). Down syndrome is located on chromosome 21. Down syndrome is also autosomal. some symptoms are poor muscle tone, small head and ears, and bulging tongue.

Dwarfism is unusually or abnormally low stature or small size. The average to be diagnosed with dwarfism can begin at birth until full adult. The tests the due to find out if you have it or not is a simple blood test. Dwarfism is found on chromosome 4. Dwarfism is also autosomal. Some symptoms are short arms and legs, apnea, large forehead, and spinel stonsis.

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