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<span>15q24 microdeletion</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/15q24-microdeletion/</span>
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<h1>15q24 microdeletion</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The <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">deletion<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> occurs on the long (q) arm of the chromosome at a position designated q24.</p><p>15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>This condition is very rare; only a few dozen affected individuals have been identified.</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 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (<a class="image-modal" data-alt="DNA is made up of base pairs and a sugar phosphate backbone." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000098_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000098" data-sourceurl="" data-title="The structure of DNA" href="https://medlineplus.gov/images/PX000098_PRESENTATION.jpeg" id="PX000098_1" title="Show image">base pairs<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), also written as 1.7-6.1 megabases (Mb), at position q24 on <a data-pid="20059" href="https://medlineplus.gov/genetics/chromosome/15/">chromosome 15</a>. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes that are thought to be important for normal development.</p><p>The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the chromosome associated with 15q24 microdeletion</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/chromosome/15/">chromosome 15</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>The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.</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>15q24 deletion</li> <li>15q24 microdeletion syndrome</li> <li>Interstitial deletion of chromosome 15q24</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/C4310804/" target="TheNewWin">Genetic Testing Registry: SIN3A-related intellectual disability syndrome due to a point mutation</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>
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<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/12219/index" target="TheNewWin">15q24 microdeletion 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>
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<section>
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<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=%2215q24 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/613406" target="TheNewWin">WITTEVEEN-KOLK SYNDROME; WITKOS</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=%2815q24%5BTIAB%5D%29+AND+%28%28deletion*%5BTIAB%5D%29+OR+%28microdeletion*%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%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>Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H,
Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu
S, Holder-Espinasse M. Genotype-phenotype correlation in four 15q24 deleted
patients identified by array-CGH. Am J Med Genet A. 2009 Dec;149A(12):2813-9.
doi: 10.1002/ajmg.a.33097. <a href="https://pubmed.ncbi.nlm.nih.gov/19921647" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874573/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson
CE, Punnett HH, Thurston VC, Sweeney D, Vance GH. A report of three patients with
an interstitial deletion of chromosome 15q24. Am J Med Genet A. 2005 Aug
15;137(1):65-71. doi: 10.1002/ajmg.a.30836. <a href="https://pubmed.ncbi.nlm.nih.gov/16007617" target="TheNewWin">Citation on PubMed</a></li>
<li>El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S,
Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular
mechanisms and potential modification by additional copy number variants. Genet
Med. 2010 Sep;12(9):573-86. doi: 10.1097/GIM.0b013e3181eb9b4a. <a href="https://pubmed.ncbi.nlm.nih.gov/20860070" target="TheNewWin">Citation on PubMed</a></li>
<li>Klopocki E, Graul-Neumann LM, Grieben U, Tonnies H, Ropers HH, Horn D, Mundlos
S, Ullmann R. A further case of the recurrent 15q24 microdeletion syndrome,
detected by array CGH. Eur J Pediatr. 2008 Aug;167(8):903-8. doi:
10.1007/s00431-007-0616-7. Epub 2007 Oct 12. <a href="https://pubmed.ncbi.nlm.nih.gov/17932688" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757600/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>McInnes LA, Nakamine A, Pilorge M, Brandt T, Jimenez Gonzalez P, Fallas M,
Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. A
large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum
disorders identifies an atypical deletion that narrows the critical region. Mol
Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5. <a href="https://pubmed.ncbi.nlm.nih.gov/20678247" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907565/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A,
Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de
Vries BB, Zuffardi O, Eichler EE. Characterization of a recurrent 15q24
microdeletion syndrome. Hum Mol Genet. 2007 Mar 1;16(5):567-72. doi:
10.1093/hmg/ddm016. Epub 2007 Mar 14. <a href="https://pubmed.ncbi.nlm.nih.gov/17360722" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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<li><a href="https://medlineplus.gov/developmentaldisabilities.html">Developmental Disabilities</a></li>
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<h2>MEDICAL ENCYCLOPEDIA</h2>
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<li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li>
<li><a href="https://medlineplus.gov/ency/article/001286.htm">Hypospadias</a></li>
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<li><a href="https://medlineplus.gov/genetics/understanding/consult/prognosis/">What is the prognosis of a genetic condition?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/">How can gene variants affect health and development?</a></li>
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