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<span>16p12.2 microdeletion</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/16p122-microdeletion/</span>
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<article>
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<h1>16p12.2 microdeletion</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is <a class="image-modal" data-alt="Genetic material is deleted from a chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00006K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00006K" data-sourceurl="" data-title="Chromosomal deletion" href="https://medlineplus.gov/images/PX00006K_PRESENTATION.jpeg" id="PX00006K_1" title="Show image">deleted<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. 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 (<a class="image-modal" data-alt="Side view photo of a man showing a small cranium and a sloping forehead" data-caption="Decreased size of the cranium is accompanied by marked posterior sloping of the forehead." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001G1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001G1" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ae2118220c1308f" data-title="Microcephaly" href="https://medlineplus.gov/images/PX0001G1_PRESENTATION.jpeg" id="PX0001G1_2" title="Show image">microcephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.</p><p>Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (<a class="image-modal" data-alt="Baby with an opening between the upper lip and the nose." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FK" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft lip" href="https://medlineplus.gov/images/PX0000FK_PRESENTATION.jpeg" id="PX0000FK_3" title="Show image">cleft lip<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) with or without an opening in the roof of the mouth (<a class="image-modal" data-alt="Baby with an opening in the roof of the mouth; inset shows greater detail." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FG" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft palate" href="https://medlineplus.gov/images/PX0000FG_PRESENTATION.jpeg" id="PX0000FG_4" title="Show image">cleft palate<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioral abnormalities.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Researchers estimate that about 1 in 2,000 newborns have a 16p12.2 microdeletion and show signs and symptoms of the condition. However, the actual number may be higher because many people with the microdeletion are likely never diagnosed. Some never come to medical attention because they have no related health or behavioral problems or have only mild signs and symptoms. Others have nonspecific features for which there can be many causes.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>People with a 16p12.2 microdeletion are missing a sequence of about 520,000 DNA building blocks (base pairs), also written as 520 kb, at position p12.2 on <a data-pid="20061" href="https://medlineplus.gov/genetics/chromosome/16/">chromosome 16</a>. The deleted region contains seven genes and affects one of the two copies of chromosome 16 in each cell.</p><p>The signs and symptoms that can result from a 16p12.2 microdeletion are generally related to the loss of one or more genes in this region. However, it is unclear which missing genes contribute to specific features that can occur in the disorder. Because some people with a 16p12.2 microdeletion have no obvious signs or symptoms, researchers believe that other genetic or environmental factors may also be involved. In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger chromosomal <a class="image-modal" data-alt="Genetic material is deleted from a chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00006K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00006K" data-sourceurl="" data-title="Chromosomal deletion" href="https://medlineplus.gov/images/PX00006K_PRESENTATION.jpeg" id="PX00006K_2" title="Show image">deletion<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> or <a class="image-modal" data-alt="A section of DNA from a chromosome is duplicated." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00008K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00008K" data-sourceurl="" data-title="Duplication" href="https://medlineplus.gov/images/PX00008K_PRESENTATION.jpeg" id="PX00008K_3" title="Show image">duplication<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> on another chromosome. Small duplications of genetic material that occur near the 16p12.2 microdeletion may also contribute to the features associated with this condition.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the chromosome associated with 16p12.2 microdeletion</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/chromosome/16/">chromosome 16</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>16p12.2 microdeletion is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the deleted region on chromosome 16 in each cell is sufficient to increase the risk of physical or developmental abnormalities.</p><p>In almost all known cases, individuals with a 16p12.2 microdeletion have inherited the chromosomal change from a parent, who may or may not have any related signs or symptoms. The condition is said to have incomplete penetrance because not everyone who has the altered chromosome develops related features.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>16p12.1 microdeletion</li> <li>Chromosome 16p12.1 deletion syndrome, 520-kb</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3149276/" target="TheNewWin">Genetic Testing Registry: Chromosome 16p12.1 deletion syndrome, 520kb</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%2216p12.2 microdeletion%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/136570" target="TheNewWin">CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%2816p12.2%29+OR+%2816p12.1%29%29+AND+%28deletion%29+AND+english%5Bla%5D+AND+human%5Bmh%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan
C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA,
Wilson RK, Schwartz DC, Eichler EE. A large and complex structural polymorphism
at 16p12.1 underlies microdeletion disease risk. Nat Genet. 2010
Sep;42(9):745-50. doi: 10.1038/ng.643. Epub 2010 Aug 22. <a href="https://pubmed.ncbi.nlm.nih.gov/20729854" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930074/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Brisset S, Capri Y, Briand-Suleau A, Tosca L, Gras D, Fauret-Amsellem AL,
Pineau D, Saada J, Ortonne V, Verloes A, Goossens M, Tachdjian G, Metay C.
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more
severe clinical manifestations. Eur J Med Genet. 2015 Sep;58(9):497-501. doi:
10.1016/j.ejmg.2015.07.001. Epub 2015 Jul 8. <a href="https://pubmed.ncbi.nlm.nih.gov/26162704" target="TheNewWin">Citation on PubMed</a></li>
<li>Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of
neurodevelopmental disease. Am J Med Genet C Semin Med Genet. 2012 May
15;160C(2):118-29. doi: 10.1002/ajmg.c.31327. Epub 2012 Apr 12. <a href="https://pubmed.ncbi.nlm.nih.gov/22499536" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114147/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Girirajan S, Pizzo L, Moeschler J, Rosenfeld J. 16p12.2 Recurrent Deletion.
2015 Feb 26 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA,
Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA):
University of Washington, Seattle; 1993-2025. Available from
http://www.ncbi.nlm.nih.gov/books/NBK274565/
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