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<span>17q12 duplication</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/17q12-duplication/</span>
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<article>
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<a name="start" id="start"></a>
<h1>17q12 duplication</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (<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_1" title="Show image">duplicated<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.</p><p>Signs and symptoms related to 17q12 duplications vary significantly, even among members of the same family. Some individuals with the duplication have no apparent signs or symptoms, or the features are very mild. Other individuals can have intellectual disability, delayed development, and a wide range of physical abnormalities.</p><p>Intellectual and learning ability in people with 17q12 duplications ranges from normal to severely impaired. Many affected individuals have delayed development, particularly involving speech and language skills and gross motor skills such sitting, standing, and walking. Seizures are also common. Neurodevelopmental and psychiatric conditions that have been reported in people with 17q12 duplications include <a data-pid="16743" href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">autism spectrum disorder</a> (which affects social interaction and communication), <a data-pid="16607" href="https://medlineplus.gov/genetics/condition/schizophrenia/">schizophrenia</a>, aggression, and self-injury. About half of affected individuals have an unusually 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_4" title="Show image">microcephaly<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>).</p><p>Less commonly, 17q12 duplications have been associated with abnormalities of the eyes, heart, kidneys, and brain. Some individuals with this chromosomal change have subtle differences in facial features, although these are not consistent.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>17q12 duplications appear to be uncommon. Several dozen people with this chromosomal change have been described in the medical literature.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Most people with 17q12 duplications have an extra copy of about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), at position q12 on <a data-pid="20063" href="https://medlineplus.gov/genetics/chromosome/17/">chromosome 17</a>. This duplication affects one of the two copies of chromosome 17 in each cell.</p><p>The duplicated segment is surrounded by short, repeated sequences of DNA that make the segment prone to rearrangement during <a class="image-modal" data-alt="The cell division processes of mitosis and meiosis." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00007K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00007K" data-sourceurl="" data-title="Mitosis and meiosis, the two types of cell division.
" href="https://medlineplus.gov/images/PX00007K_PRESENTATION.jpeg" id="PX00007K_2" title="Show image">cell division<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The rearrangement can lead to <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">extra<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="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_4" title="Show image">missing<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> copies of DNA at 17q12. (A missing copy of this segment causes a related chromosomal condition called <a data-pid="16717" href="https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/">17q12 deletion syndrome</a>.)</p><p>The segment of 17q12 that is most commonly duplicated includes at least 15 genes. It is unclear which of these genes, when present in more than one copy, contribute to intellectual disability, delayed development, and the other signs and symptoms described above. Because some people with a 17q12 duplication have no obvious intellectual or physical problems, researchers suspect that additional genetic factors may influence whether a person has signs and symptoms related to the chromosomal change.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the chromosome associated with 17q12 duplication</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/chromosome/17/">chromosome 17</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>17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of the duplication in each cell is sufficient to cause the signs and symptoms.</p><p>Most 17q12 duplications are <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">inherited from a parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In these cases, the parent most often has only mild signs and symptoms or no related features at all. Less commonly, 17q12 duplications represent a <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_2" title="Show image">new (de novo) chromosomal change<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and occur in people with no history of the duplication in their family.</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>17q12 duplication syndrome</li> <li>17q12 microduplication</li> <li>17q12 microduplication syndrome</li> <li>17q12 recurrent duplication</li> <li>Chromosome 17q12 duplication syndrome</li> <li>Recurrent duplication of 17q12</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/C3281137/" target="TheNewWin">Genetic Testing Registry: Chromosome 17q12 duplication syndrome</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>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/13296/index" target="TheNewWin">17q12 microduplication syndrome</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=%2217q12 duplication%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/614526" target="TheNewWin">CHROMOSOME 17q12 DUPLICATION SYNDROME</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=%2817q12%5BTIAB%5D%29+AND+%28%28duplication%5BTIAB%5D%29+OR+%28microduplication%5BTIAB%5D%29%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>Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi
B, Saggese G, Simi P, Valetto A. 17q12 microduplications: a challenge for
clinicians. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905.
<a href="https://pubmed.ncbi.nlm.nih.gov/25691423" target="TheNewWin">Citation on PubMed</a></li>
<li>Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Expanding the phenotype
associated with 17q12 duplication: case report and review of the literature. Am J
Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10.
<a href="https://pubmed.ncbi.nlm.nih.gov/23307502" target="TheNewWin">Citation on PubMed</a></li>
<li>Mefford H. 17q12 Recurrent Duplication. 2016 Feb 25 [updated 2022 Jan 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/NBK344340/
<a href="https://pubmed.ncbi.nlm.nih.gov/26925472" target="TheNewWin">Citation on PubMed</a></li>
<li>Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D,
Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C.
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal
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