https://wikimd.org/index.php?action=history&feed=atom&title=Chromosome_20p_duplicationChromosome 20p duplication - Revision history2026-04-27T09:48:35ZRevision history for this page on the wikiMediaWiki 1.44.2https://wikimd.org/index.php?title=Chromosome_20p_duplication&diff=2380816&oldid=prevDeepika vegiraju: Created page with "== '''Alternate names''' == Duplication 20p; Trisomy 20p; 20p duplication; 20p trisomy; Partial trisomy 20p == '''Definition''' == Chromosome 20p duplication is a rare chromo..."2021-06-08T17:16:37Z<p>Created page with "== '''Alternate names''' == Duplication 20p; Trisomy 20p; 20p duplication; 20p trisomy; Partial trisomy 20p == '''Definition''' == Chromosome 20p duplication is a rare chromo..."</p>
<p><b>New page</b></p><div>== '''Alternate names''' ==<br />
Duplication 20p; Trisomy 20p; 20p duplication; 20p trisomy; Partial trisomy 20p<br />
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== '''Definition''' ==<br />
Chromosome 20p duplication is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20. <br />
[[File:Chromosome duplication.jpg|thumb]]<br />
[[File:Human chromosome 20 ideogram.svg|thumb]]<br />
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== '''Epidemiology''' ==<br />
Very few cases of chromosome 20p duplication have been reported. <br />
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== '''Cause''' ==<br />
The majority of those have been partial [[Duplication|duplications]] (involving only part of the p arm) and have occurred as part of a [[translocation]] (along with a deletion on another chromosome).<br />
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== '''Inheritance''' ==<br />
* Most cases of chromosome 20p duplication have resulted from a healthy parent having a chromosomal [[balanced translocation]] or inversion (when a piece of a chromosome is facing the wrong direction).<br />
* When a parent has one of these, there is an increased risk to have another child with a chromosome abnormality. <br />
* Some chromosome 20p duplications have resulted from a random genetic error (not inherited), in which both parents have normal chromosomes. <br />
* In these cases, it is unlikely the parents would have another child with a chromosome abnormality.<br />
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== '''Signs and symptoms''' ==<br />
* The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. <br />
* In general, smaller duplications are less severe than larger duplications.<br />
* Signs and symptoms that have been reported in people with chromosome 20p duplication include [[intellectual disability]], [[developmental delay]], speech delay, poor coordination, dental problems, spinal bone abnormalities, distinctive facial features, and heart problems.<br />
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== '''Diagnosis''' ==<br />
Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities. <br />
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Several types of genetic tests can identify chromosome disorders: <br />
* '''Karyotype''' - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions.<br />
* '''FISH''' - a laboratory technique that is used to detect and locate a specific [[DNA sequence]] on a chromosome. During [[FISH]], a chromosome is exposed to a small DNA sequence called a probe that has a [[fluorescent]] molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with [[karyotyping]] for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q.<br />
* '''Array CGH''' - a technology that detects deletions that are too small to be seen on karyotype.<br />
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== '''Treatment''' ==<br />
Treatment for chromosome 20p duplications depends on the signs and symptoms present in each person.<br />
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{{stb}}</div>Deepika vegiraju