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<span>1q21.1 microdeletion</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/1q211-microdeletion/</span>
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<h1>1q21.1 microdeletion</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 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> in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.</p><p>About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild.</p><p>Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include 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_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>), short stature, and eye problems such as clouding of the lenses (<a class="image-modal" data-alt="Drawing of a healthy eye with a clear lens compared to an eye with a lens clouded by cataract." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000US_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000US" data-sourceurl="" data-title="Healthy eye and eye with cataract" href="https://medlineplus.gov/images/PX0000US_PRESENTATION.jpeg" id="PX0000US_3" title="Show image">cataracts<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss.</p><p>Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, <a data-pid="16985" href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">attention-deficit/hyperactivity disorder</a> (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for <a data-pid="16607" href="https://medlineplus.gov/genetics/condition/schizophrenia/">schizophrenia</a>.</p><p>Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Most people with a 1q21.1 microdeletion are <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">missing<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of <a data-pid="20031" href="https://medlineplus.gov/genetics/chromosome/1/">chromosome 1</a>. However, the exact size of the deleted region varies. This deletion affects one of the two copies of chromosome 1 in each cell.</p><p>The signs and symptoms that can result from a 1q21.1 microdeletion are probably related to the loss of several genes in this region. Researchers are working to determine which missing genes contribute to the specific features associated with the deletion. Because some people with a 1q21.1 microdeletion have no obvious related features, additional genetic or environmental factors are thought to be involved in the development of signs and symptoms.</p><p>Researchers sometimes refer to 1q21.1 microdeletion as the recurrent distal 1.35-Mb deletion to distinguish it from the genetic change that causes <a data-pid="15185" href="https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome/">thrombocytopenia-absent radius syndrome</a> (TAR syndrome). TAR syndrome results from the deletion of a different, smaller DNA segment in the chromosome 1q21.1 region near the area where the 1.35-Mb deletion occurs. The chromosomal change related to TAR syndrome is often called the 200-kb deletion.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the chromosome associated with 1q21.1 microdeletion</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/chromosome/1/">chromosome 1</a></li>
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</ul>
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<p><strong>Additional Information from NCBI Gene:</strong></p>
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|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/51205" target="TheNewWin">ACP6</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/607" target="TheNewWin">BCL9</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/9557" target="TheNewWin">CHD1L</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2330" target="TheNewWin">FMO5</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2702" target="TheNewWin">GJA5</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2703" target="TheNewWin">GJA8</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/51463" target="TheNewWin">GPR89B</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/54768" target="TheNewWin">HYDIN</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5565" target="TheNewWin">PRKAB2</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>1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that <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">missing genetic material<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.</p><p>In at least half of cases, individuals with a 1q21.1 microdeletion <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_2" title="Show image">inherit the chromosomal change from a parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In general, parents who carry a 1q21.1 microdeletion have milder signs and symptoms than their children who inherit the deletion, even though the deletion is the same size. About one-quarter of these parents have no associated features.</p><p>A 1q21.1 microdeletion can also occur in people <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_3" title="Show image">whose parents do not carry the chromosomal change<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In this situation, the deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) in a parent or in early embryonic 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>1q21.1 contiguous gene deletion</li> <li>1q21.1 deletion</li> <li>Chromosome 1q21.1 deletion syndrome</li> <li>Chromosome 1q21.1 deletion syndrome, 1.35-Mb</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/C2675897/" target="TheNewWin">Genetic Testing Registry: Chromosome 1q21.1 deletion 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/10813/index" target="TheNewWin">1q21.1 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>
|
||
|
||
</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=%221q21.1 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/612474" target="TheNewWin">CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB</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=%281q21.1%5BTIAB%5D%29+AND+%28%28microdeletion*%5BTIAB%5D%29+OR+%28deletion*%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">
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||
|
||
<ul>
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<li>Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani
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SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G,
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Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T,
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Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B,
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Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT,
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Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent
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reciprocal 1q21.1 deletions and duplications associated with microcephaly or
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macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008
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Dec;40(12):1466-71. doi: 10.1038/ng.279. <a href="https://pubmed.ncbi.nlm.nih.gov/19029900" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680128/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
<li>Guo R, Haldeman-Englert CR. 1q21.1 Recurrent Deletion. 2011 Feb 24 [updated
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<li>Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S,
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Aug 8;6:54. doi: 10.1186/1750-1172-6-54. <a href="https://pubmed.ncbi.nlm.nih.gov/21824431" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180300/" target="TheNewWin">Free article on PubMed Central</a></li>
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<li>Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney
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rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J
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Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10. <a href="https://pubmed.ncbi.nlm.nih.gov/18784092" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
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||
<li>Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E,
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Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group. Proximal microdeletions
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and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J
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Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8. <a href="https://pubmed.ncbi.nlm.nih.gov/22317977" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376272/" target="TheNewWin">Free article on PubMed Central</a></li>
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<li>Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S,
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Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD,
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Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D,
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M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C,
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Muhleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA,
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Franke B; GROUP; Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A,
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Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein
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DB, Nothen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. Large recurrent
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||
microdeletions associated with schizophrenia. Nature. 2008 Sep
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||
11;455(7210):232-6. doi: 10.1038/nature07229. <a href="https://pubmed.ncbi.nlm.nih.gov/18668039" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687075/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
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|
||
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|
||
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