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Topic review
Updated time: 21 Apr 2021
Submitted by: Peter Tang
Definition: 10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.
Entry Collection : MedlinePlus
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Topic review
Updated time: 21 Apr 2021
Submitted by: Xiaohong Yan
Definition: Long introm-spliced hairpin RNA (ihpRNA) constructs which contained inverted repeats of the phytoene desaturase (PDS) separated by an intron, had been shown to very effective in triggering PDS silencing in Brassica napus. Using the PDS gene as a target control, it was shown that the RCA-mediated long ihpRNA construct was signicantly effective in triggering gene silence in B. napus.
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Topic review
Updated time: 10 Apr 2021
Submitted by: Catherine Yang
Definition: 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.
Entry Collection : MedlinePlus
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Topic review
Updated time: 10 Apr 2021
Submitted by: Catherine Yang
Definition: 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
Entry Collection : MedlinePlus
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Topic review
Updated time: 10 Apr 2021
Submitted by: Catherine Yang
Definition: 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.
Entry Collection : MedlinePlus
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Topic review
Updated time: 23 Dec 2020
Submitted by: Catherine Yang
Definition: 16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.
Entry Collection : MedlinePlus
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Topic review
Updated time: 23 Dec 2020
Submitted by: Catherine Yang
Definition: 16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.
Entry Collection : MedlinePlus
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Topic review
Updated time: 01 Dec 2020
Submitted by: Hui Min Neoh
Definition: The 16S rRNA gene is highly conserved in all bacteria (and also archaea). Nonetheless, it contains nine hypervariable regions (V1 - V9), where sequences of these regions can be used to identify and discriminate bacterial genus, sometimes until the species level. This makes the gene a useful tool for phylogenetic studies. With the introduction of next-generation sequencing technologies, 16S rRNA next-generation sequencing (16SNGS) has allowed profiling of bacterial communities found in organisms and the environment, and lead to the discovery of many previously unculturable members of the bacteria kingdom.
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Topic review
Updated time: 23 Dec 2020
Submitted by: Catherine Yang
Definition: 17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.
Entry Collection : MedlinePlus
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Topic review
Updated time: 23 Dec 2020
Submitted by: Catherine Yang
Definition: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
Entry Collection : MedlinePlus
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