https://wikimd.org/index.php?action=history&feed=atom&title=15q11.2_microdeletion15q11.2 microdeletion - Revision history2026-04-27T06:45:34ZRevision history for this page on the wikiMediaWiki 1.44.2https://wikimd.org/index.php?title=15q11.2_microdeletion&diff=2380663&oldid=prevDeepika vegiraju: Created page with "== '''Alternate names''' == Chromosome 15q11.2 microdeletion; Chromosome 15q11.2 deletion; Del(15)(q11.2); 15q11.2 microdeletion syndrome; Monosomy 15q11.2; 15q11.2 BP1-BP2 mi..."2021-05-29T14:44:44Z<p>Created page with "== '''Alternate names''' == Chromosome 15q11.2 microdeletion; Chromosome 15q11.2 deletion; Del(15)(q11.2); 15q11.2 microdeletion syndrome; Monosomy 15q11.2; 15q11.2 BP1-BP2 mi..."</p>
<p><b>New page</b></p><div>== '''Alternate names''' ==<br />
Chromosome 15q11.2 microdeletion; Chromosome 15q11.2 deletion; Del(15)(q11.2); 15q11.2 microdeletion syndrome; Monosomy 15q11.2; 15q11.2 BP1-BP2 microdeletion syndrome <br />
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== '''Definition''' ==<br />
15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the '''long arm of chromosome 15 (at a location designated q11.2) is missing (deleted)'''. <br />
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== '''Cause''' ==<br />
* A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. <br />
* A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred.<br />
* When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). <br />
* A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion.<br />
* The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. <br />
* It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.<br />
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== '''Inheritance''' ==<br />
A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. <br />
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== '''Signs and symptoms''' ==<br />
The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. <br />
Some people with the microdeletion don't have any apparent features, while others are more severely affected. <br />
When not all people with a genetic abnormality are affected, the condition is said to have [[reduced penetrance]]. <br />
When signs and symptoms vary among affected people, the condition is said to have variable expressivity.<br />
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The most commonly reported features in people with a 15q11.2 microdeletion include:<br />
* Neurological dysfunction<br />
* [[Developmental delay]]<br />
* Language delay<br />
* Motor delay<br />
* ADD/ADHD<br />
* [[Autism spectrum disorder]].<br />
Other signs and symptoms that have been reported include [[seizures]]; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness.<br />
While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy.<br />
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== '''Diagnosis''' ==<br />
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== '''Treatment''' ==<br />
Treatment depends on the signs and symptoms in each person.<br />
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[[Category:Congenital disorders]]<br />
[[Category:Syndromes]]<br />
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{{stub}}</div>Deepika vegiraju