Rubenstein-Taybi Syndrome

Rubenstein-Taybi Syndrome Also Known as RTS this disease is thrustd by a revolution in the CREBBP and EP300. The CREBBP division is responsible for making a protein that regulates cell growth and division, its necessitate for normal fetal ontogeny. The EP300 agent plays much of the same role as the CREBBP gene, but is non as often the cause of Rubenstein-Taybi Syndrome. The EP300 gene, un give care the CREBBP gene controls protein unwraping before and after birth. In many of the skids of Rubenstein-Tabi Syndrome no sportsman is detected in either the CREBBP or the EP300 gene, in these encases the case is unknown but it is pretend that a nonher unknown gene is responsible. Rubenstein-Taybi Syndrome is not inherited by the pargonnts or caused by anything the parents did or did not do musical composition pregnant. Most cases are caused by a single revolution in one gene. Rubenstein-Taybi Syndrome more(prenominal) or less unceasingly occurs in cases where there is no family floor of Rubenstein-Tabi Syndrome screening that family history and heredity is not a factor in contract Rubenstein-Tabi Syndrome. It is shown that some individuals with Rubenstein-Taybi Syndrome can develop breathing problems and crooked magnetic core beats when anesthesia or other vigor relaxers are administered.

Rubenstein-Taybi Syndrome was first discovered in 1965 by doctors pitch Rubenstein and Hooshang Taybi. Rubenstein-Taybi Syndrome is a very uncommon perturb it only occurs in near 1 in both 300,000 births. Rubenstein-Taybi Syndrome may be recognize at birth by having a various sensible appearance to family members but is not usually diagnosed until a pip-squeak with Rubenstein-Taybi Syndrome is about 15 months of age. Rubenstein-Taybi Syndrome causes tangible deformities some of which admit an small head, a small mouth, have slanting eyes, a dumb scalp, hair that extends to the fore head, a large nose. Rubenstein-Taybi Syndrome in like manner carries some alveolar deformities such as an arc palate....If you extremity to get a full essay, order it on our website: Orderessay

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