By Philip M. Parker

In March 2001, the nationwide Institutes of well-being issued the next caution: "The variety of sites delivering health-related assets grows on a daily basis. Many websites offer worthy details, whereas others could have info that's unreliable or misleading." in addition, as a result of speedy bring up in Internet-based details, many hours may be wasted looking out, identifying, and printing. in view that merely the smallest fraction of data facing Beare-Stevenson cutis gyrata syndrome is listed in se's, resembling www.google.com or others, a non-systematic method of web study could be not just time eating, but additionally incomplete. This ebook used to be created for doctors, scholars, and contributors of most people who are looking to behavior clinical learn utilizing the main complicated instruments on hand and spending the smallest amount of time doing so.

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Additional resources for Beare-Stevenson Cutis Gyrata Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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This phenomenon is called anticipation. Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. Anticipation typically occurs with disorders that are caused by an unusual type of mutation called a trinucleotide repeat expansion. A trinucleotide repeat is a sequence of three DNA building blocks (nucleotides) that is repeated a number of times in a row. DNA segments with an abnormal number of these repeats are unstable and prone to errors during cell division.

Help Me Understand Genetics 27 The most common form of aneuploidy is trisomy, or the presence of an extra chromosome in each cell. “Tri-” is Greek for “three”; people with trisomy have three copies of a particular chromosome in each cell instead of the normal two copies. Down syndrome is an example of a condition caused by trisomy—people with Down syndrome typically have three copies of chromosome 21 in each cell, for a total of 47 chromosomes per cell. Monosomy, or the loss of one chromosome from each cell, is another kind of aneuploidy.

Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. Examples Huntington disease, neurofibromatosis type 1 Help Me Understand Genetics 33 Autosomal recessive Two mutated copies of the gene are present in each cell when a person has an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family.

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