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Topic Review
17q12 Deletion Syndrome
17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.
  • 662
  • 23 Dec 2020
Topic Review
17q12 duplication
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.
  • 745
  • 23 Dec 2020
Topic Review
19p13.13 Deletion Syndrome
19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13
  • 703
  • 23 Dec 2020
Topic Review
1p36 Deletion Syndrome
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
  • 567
  • 25 Dec 2020
Topic Review
1q21.1 Microdeletion
1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.
  • 679
  • 23 Dec 2020
Topic Review
1q21.1 microduplication
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
  • 479
  • 23 Dec 2020
Topic Review
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).
  • 384
  • 23 Dec 2020
Topic Review
21-hydroxylase deficiency
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 402
  • 23 Dec 2020
Topic Review
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.  
  • 404
  • 23 Dec 2020
Topic Review
22q11.2 Microdeletion
Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA:567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level like in case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability in phenotypes. The penetrance seems to be more genotype-specific than deleted locus-specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serve as an example of genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with.
  • 592
  • 08 Sep 2020
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