Chromosomal Abnormality

Chromosome Abnormality
Chromosome Abnormality happens at plan when the sperm and the nut meet. A whole chromosome might be missing, or part of a chromosome might piss been deleted or replicated. The risk of the freakish conception depends on the parents ages. The risk is higher with older parents, and it is not sex-linked.The abnormal chromosome count can cause many syndromes, including the Smith-Magenis Syndrome.
Smith-Magenis Syndrome is a relatively rare chromosomal abnormality caused by a cutting of few genes in chromosome 17. In most cases, the deletion occurs by the bye at conception when an abnormal sperm or egg from one parent unites with a normal sperm or egg from the other parent where the abnormal sperm or egg contains the missing chromosomal material (Stolmski). Even though it is related to genetic material, Smith-Magenis Syndrome does not run in families. It is diag hooterd in at least 1 in 25,000 individuals worldwide, but scientists call up that many people are not even diagnosed with the syndrome, so at least 1 in 25,000 individuals worldwide may be affected (NIH).
People affected with the syndrome usually have characteristic nervus facialis features of broad, square-shaped face with deep-set eyes, undecomposed cheeks, and a prominent lower jaw.



The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip (NIH). Less common feature includes cleave lip (Slomski). At first, the characteristics suggest that these people have win syndrome. The features are subtle during childhood, especially early on, but they became much distinctive as the patient grows older.
Even though the facial features suggest the diagnosis, the behavior suggests the diagnosis earlier. Beginning early in life, disrupted sleep patterns are common. Affected people may be very sleepy during the day, but have hold out falling asleep and awaken several times to each one night (NIH). People with the...If you want to get a full essay, order it on our website: Ordercustompaper.com



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