WHAT IS DOWNS SYNDROME ? GIVE ITS SYMPTOMS AND CAUSES
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Cause: Presence of an additional copy of chromosome 21 (Trisomy of 21)
Affected individual has short stature, small, round head, furrowed tongue, partially opened mouth, palm crease, congenital heart disease and mental retardation.
is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests, Down syndrome can be detected before and after a baby is born.
Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell 's nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person 's cells have an extra full or partial copy of chromosome 21, the result is Down syndrome.
The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46.
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Characteristic Features and Symptoms of Down Syndrome
Although the severity of Down syndrome ranges from mild to severe, most individuals with Down syndrome have widely recognizable physical characteristics. These include:
- a flattened face and nose, a short neck, a small mouth sometimes with a large, protruding tongue, small ears, upward slanting eyes that may have small skin folds at the inner corner (epicanthal fold);
- white spots (also known as Brushfield spots) may be present on the colored part of the eye (iris);
- the hands are short and broad with short fingers, and with a single crease in the palm;
- poor muscle tone and loose ligaments are also common; and
- development and growth is usually delayed and often average height and developmental milestones are not reached.