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<!--
|
||
UID=91280
|
||
ConceptID=C0376628
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Chromosome breakage</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91280</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0376628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Breakage, Chromosomal; Breakage, Chromosome; Breakages, Chromosomal; Breakages, Chromosome; Chromosomal Breakage; Chromosomal Breakages; Chromosome Breakage; Chromosome Breakages</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0040012">HP:0040012</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0376628[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=91280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Chromosome breakage</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1369113" ref="tree=MeSH" title="MedGen record for Abnormal cellular phenotype">Abnormal cellular phenotype</a></span><ul><li><span class="TLline"><a href="/medgen/869173" ref="tree=MeSH" title="MedGen record for Abnormal cellular physiology">Abnormal cellular physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1631925" ref="tree=MeSH" title="MedGen record for Abnormality of chromosome stability">Abnormality of chromosome stability</a></span><ul><li><span class="matched_ds">Chromosome breakage</span><ul><li><span class="TLline"><a href="/medgen/867372" ref="tree=MeSH" title="MedGen record for Chromosomal breakage induced by crosslinking agents">Chromosomal breakage induced by crosslinking agents</a></span></li><li><span class="TLline"><a href="/medgen/866851" ref="tree=MeSH" title="MedGen record for Chromosomal breakage induced by ionizing radiation">Chromosomal breakage induced by ionizing radiation</a></span></li><li><span class="TLline"><a href="/medgen/326579" ref="tree=MeSH" title="MedGen record for Folate-dependent fragile site at Xq28">Folate-dependent fragile site at Xq28</a></span></li><li><span class="TLline"><a href="/medgen/890368" ref="tree=MeSH" title="MedGen record for Large-Scale State Transition">Large-Scale State Transition</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_2685"><div><strong>Bloom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2685</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0005859</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include cancer of a wide variety of types and anatomic sites, diabetes mellitus as a result of insulin resistance, chronic obstructive pulmonary disease, and hypothyroidism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2685">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351256"><div><strong>Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351256</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864947</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351256">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356661"><div><strong>Scleroderma, familial progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356661</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356661">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357976"><div><strong>Radial-renal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357976</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1867396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462003"><div><strong>Fanconi anemia complementation group O</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854018"><div><strong>Fanconi anemia complementation group L</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3469528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815318"><div><strong>Fanconi anemia complementation group Q</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3808988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815318">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934618"><div><strong>Fanconi anemia complementation group U</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632414"><div><strong>Fanconi anemia, complementation group S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632414</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4554406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632414">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bloom syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group L</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group O</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group Q</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group U</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia, complementation group S</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial-renal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scleroderma, familial progressive</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30816533">Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao J,
|
||
Shen R,
|
||
Zhang W,
|
||
Mao B,
|
||
Shi Q,
|
||
Zhou R,
|
||
Liu Z,
|
||
Zeng B,
|
||
Chen X,
|
||
Zhang C,
|
||
Lu M,
|
||
Han P,
|
||
Wu J,
|
||
Zhou A,
|
||
Tan X</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2019 May;19(5):3441-3448.
|
||
Epub 2019 Feb 27
|
||
doi: 10.3892/mmr.2019.9992.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30816533" target="_blank">30816533</a><a href="/pmc/articles/PMC6471340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7243421">Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auerbach AD,
|
||
Adler B,
|
||
Chaganti RS</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1981 Jan;67(1):128-35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7243421" target="_blank">7243421</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5084984">A pilot screening study of chromosome breakage in cultured blood cells from newborn infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hook EB,
|
||
Healy K,
|
||
Powers ML,
|
||
Hatcher NH</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
1972 Dec;16(4):428-30.
|
||
doi: 10.1016/0027-5107(72)90214-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5084984" target="_blank">5084984</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chromosome%20breakage%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (16)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36142121">Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walker JR,
|
||
Zhu XD</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Sep 6;23(18)
|
||
doi: 10.3390/ijms231810212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36142121" target="_blank">36142121</a><a href="/pmc/articles/PMC9499456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27265895">Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lilljebjörn H,
|
||
Henningsson R,
|
||
Hyrenius-Wittsten A,
|
||
Olsson L,
|
||
Orsmark-Pietras C,
|
||
von Palffy S,
|
||
Askmyr M,
|
||
Rissler M,
|
||
Schrappe M,
|
||
Cario G,
|
||
Castor A,
|
||
Pronk CJ,
|
||
Behrendtz M,
|
||
Mitelman F,
|
||
Johansson B,
|
||
Paulsson K,
|
||
Andersson AK,
|
||
Fontes M,
|
||
Fioretos T</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2016 Jun 6;7:11790.
|
||
doi: 10.1038/ncomms11790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27265895" target="_blank">27265895</a><a href="/pmc/articles/PMC4897744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21404142">Thrombosis prophylaxis in critically ill patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fries D</span><br />
|
||
<span class="medgenPMjournal">Wien Med Wochenschr</span>
|
||
2011 Feb;161(3-4):68-72.
|
||
doi: 10.1007/s10354-011-0878-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21404142" target="_blank">21404142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18474207">Disrupted-in-Schizophrenia-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muir WJ,
|
||
Pickard BS,
|
||
Blackwood DH</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2008 Apr;10(2):140-7.
|
||
doi: 10.1007/s11920-008-0025-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18474207" target="_blank">18474207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10203748">Radiation, DNA damage and cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall J,
|
||
Angèle S</span><br />
|
||
<span class="medgenPMjournal">Mol Med Today</span>
|
||
1999 Apr;5(4):157-64.
|
||
doi: 10.1016/s1357-4310(99)01435-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10203748" target="_blank">10203748</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chromosome%20breakage%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (553)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22972457">Chromothripsis and cancer: causes and consequences of chromosome shattering.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forment JV,
|
||
Kaidi A,
|
||
Jackson SP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cancer</span>
|
||
2012 Oct;12(10):663-70.
|
||
Epub 2012 Sep 13
|
||
doi: 10.1038/nrc3352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22972457" target="_blank">22972457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22160080">Fanconi anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soulier J</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2011;2011:492-7.
|
||
doi: 10.1182/asheducation-2011.1.492.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22160080" target="_blank">22160080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18474207">Disrupted-in-Schizophrenia-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muir WJ,
|
||
Pickard BS,
|
||
Blackwood DH</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2008 Apr;10(2):140-7.
|
||
doi: 10.1007/s11920-008-0025-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18474207" target="_blank">18474207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17515301">Complex chromosomal rearrangements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patsalis PC</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2007;18(1):57-69.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17515301" target="_blank">17515301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16208689">XK-aprosencephaly and related entities.</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/5123923">Chromosome breakage and ultrasound.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Davis TG</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chromosome%20breakage%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (294)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31202577">Topoisomerase II-Induced Chromosome Breakage and Translocation Is Determined by Chromosome Architecture and Transcriptional Activity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Canela A,
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Maman Y,
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Huang SN,
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Wutz G,
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Tang W,
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Zagnoli-Vieira G,
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Callen E,
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Wong N,
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Day A,
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Peters JM,
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<div class="nl"><a target="_blank" href="/pubmed/23153487">Chromothripsis: chromosomes in crisis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jones MJ,
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<div class="nl"><a target="_blank" href="/pubmed/22972457">Chromothripsis and cancer: causes and consequences of chromosome shattering.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Forment JV,
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Kaidi A,
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2012 Oct;12(10):663-70.
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<div class="portlet_content ln"><span class="medgenPMauthor">Bakhoum SF,
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2012 Apr;122(4):1138-43.
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<div class="nl"><a target="_blank" href="/pubmed/6398282">Carcinogenicity and mutagenicity of nickel and nickel compounds.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reith A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chromosome%20breakage%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (289)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32299917">Mechanisms generating cancer genome complexity from a single cell division error.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Umbreit NT,
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Zhang CZ,
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Lynch LD,
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2020 Apr 17;368(6488)
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<div class="nl"><a target="_blank" href="/pubmed/31202577">Topoisomerase II-Induced Chromosome Breakage and Translocation Is Determined by Chromosome Architecture and Transcriptional Activity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Canela A,
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Maman Y,
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Huang SN,
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Wutz G,
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Tang W,
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Zagnoli-Vieira G,
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Callen E,
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Wong N,
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Day A,
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Peters JM,
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Caldecott KW,
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Pommier Y,
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Nussenzweig A</span><br />
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<span class="medgenPMjournal">Mol Cell</span>
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2019 Jul 25;75(2):252-266.e8.
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Epub 2019 Jun 12
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doi: 10.1016/j.molcel.2019.04.030.
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<span class="bold">PMID: </span><a href="/pubmed/31202577" target="_blank">31202577</a><a href="/pmc/articles/PMC8170508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21404142">Thrombosis prophylaxis in critically ill patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fries D</span><br />
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<span class="medgenPMjournal">Wien Med Wochenschr</span>
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2011 Feb;161(3-4):68-72.
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doi: 10.1007/s10354-011-0878-6.
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<span class="bold">PMID: </span><a href="/pubmed/21404142" target="_blank">21404142</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15162014">On the nature of visible chromosomal gaps and breaks.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Savage JR</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/12464345">Reflections and meditations upon complex chromosomal exchanges.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Savage JR</span><br />
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<span class="medgenPMjournal">Mutat Res</span>
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2002 Dec;512(2-3):93-109.
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<span class="bold">PMID: </span><a href="/pubmed/12464345" target="_blank">12464345</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chromosome%20breakage%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (686)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27894692">The ex vivo L-CBMN assay detects significant human exposure to butadiene.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bolognesi C,
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Kirsch-Volders M</span><br />
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<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
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2016 Oct-Dec;770(Pt A):73-83.
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Epub 2016 Apr 6
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||
doi: 10.1016/j.mrrev.2016.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27894692" target="_blank">27894692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27894690">A systematic review of the association between occupational exposure to formaldehyde and effects on chromosomal DNA damage measured using the cytokinesis-block micronucleus assay in lymphocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenech M,
|
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Nersesyan A,
|
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Knasmueller S</span><br />
|
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<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
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2016 Oct-Dec;770(Pt A):46-57.
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Epub 2016 Apr 19
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||
doi: 10.1016/j.mrrev.2016.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27894690" target="_blank">27894690</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chromosome%20breakage%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0376628%5bDISCUI%5d&filter=method%3A3%5F21" target="_blank">Chromosome breakage studies (1)</a></li>
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