Thread: From Hell
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Old 01-01-2015, 02:35 PM   #118
lightgiver
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Lightbulb Gene 5


Geneticists use diagrams called ideograms as a standard representation for chromosomes.. Ideograms show a chromosome's relative size and its banding pattern.. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope.. These bands are used to describe the location of genes on each chromosome...
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Humans normally have 46 chromosomes in each cell, divided into 23 pairs.. Two copies of chromosome 5, one copy inherited from each parent, form one of the pairs.. Chromosome 5 spans about 181 million DNA building blocks (base pairs) and represents almost 6 percent of the total DNA in cells.. Chromosome 5 likely contains about 900 genes that provide instructions for making proteins.. These proteins perform a variety of different roles in the body..Cri-du-chat (cat's cry) syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5.. This chromosomal change is written as 5p- (5p minus)...

Leigh syndrome is a severe neurological disorder that typically arises in the first year of life.. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of individuals develop symptoms in adulthood or have symptoms that worsen more slowly..Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada...



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Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life...Netherton syndrome is estimated to affect 1 in 200,000 newborns...

Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent..Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands...

Weaver syndrome is a disorder characterized by skeletal abnormalities and developmental delay.. It is considered an overgrowth syndrome because the bones of affected individuals grow and develop more quickly than usual (advanced bone age) both before and after birth.. Adult height is typically normal to tall..In addition to advanced bone age, people with Weaver syndrome may have other skeletal abnormalities..The prevalence of Weaver syndrome is unknown.. About 30 cases have been described in the medical literature..
http://ghr.nlm.nih.gov/chromosome/5/show/Conditions
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