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<title>
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Entry
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- %159595 - MYELOPROLIFERATIVE SYNDROME, TRANSIENT
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- OMIM
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<div><a href="http://biogps.org/#goto=genereport&id=8205" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/8205" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://clinicaltrials.gov/search?cond=MYELOPROLIFERATIVE SYNDROME, TRANSIENT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23117&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420611" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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</span>
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<div><a href="http://www.informatics.jax.org/disease/159595" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060888" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 450934005, 721307000<br />
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<strong>ORPHA:</strong> 420611<br />
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<strong>DO:</strong> 0060888<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
|
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<span class="text-danger"><strong>%</strong></span>
|
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159595
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MYELOPROLIFERATIVE SYNDROME, TRANSIENT
|
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
MST<br />
|
|
LEUKEMIA, TRANSIENT<br />
|
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TRANSIENT ABNORMAL MYELOPOIESIS; TAM
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
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Cytogenetic location: <a href="/geneMap/21/8?start=-3&limit=10&highlight=8">21q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr21:13000001-15000000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">21:13,000,001-15,000,000</a> </span>
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Leukemia, transient, of Down syndrome
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<a href="/entry/159595"> 159595 </a>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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- Transient myeloproliferative syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/450934005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">450934005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/721307000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">721307000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834582</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005534" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005534</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005534" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005534</a>]</span><br />
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- Usually in newborns with Down syndrome<br /> - rarely in normals<br />
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- Leukocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414478003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414478003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111583006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111583006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.82</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.829</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.60</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023518</a>, <a href="https://bioportal.bioontology.org/search?q=C0750426&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750426</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001974</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001974</a>]</span><br />
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- Possible disomic homozygosity at 21q11.2<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>Transient myeloproliferative syndrome is a leukemoid reaction that occurs in some newborn infants with Down syndrome and rarely in phenotypically normal infants (<a href="#5" class="mim-tip-reference" title="Seibel, N. L., Sommer, A., Miser, J. <strong>Transient neonatal leukemoid reactions in mosaic trisomy 21.</strong> J. Pediat. 104: 251-254, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6229618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6229618</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)81006-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6229618">Seibel et al., 1984</a>). In 9 Down syndrome patients with transient myeloproliferative syndrome, <a href="#3" class="mim-tip-reference" title="Niikawa, N., Deng, H.-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y., Kuwano, A., Kajii, T. <strong>Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.</strong> Hum. Genet. 87: 561-566, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680787</a>] [<a href="https://doi.org/10.1007/BF00209012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680787">Niikawa et al. (1991)</a> found that the mode of inheritance of centromeric chromosomal markers was compatible with duplication of one parental chromosome 21. Therefore, they proposed a hypothesis of 'disomic homozygosity' of a mutant gene on chromosome 21 as the causative mechanism (<a href="#1" class="mim-tip-reference" title="Abe, K., Kajii, T., Niikawa, N. <strong>Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome.</strong> Hum. Genet. 82: 313-316, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2525515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2525515</a>] [<a href="https://doi.org/10.1007/BF00273988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2525515">Abe et al., 1989</a>). <a href="#3" class="mim-tip-reference" title="Niikawa, N., Deng, H.-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y., Kuwano, A., Kajii, T. <strong>Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.</strong> Hum. Genet. 87: 561-566, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680787</a>] [<a href="https://doi.org/10.1007/BF00209012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680787">Niikawa et al. (1991)</a> observed a Down syndrome patient who had an inversion of one chromosome 21; by studies with DNA polymorphic markers in 5 other patients, they obtained results suggesting that the putative gene (which they symbolized TMS) was located at 21q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6229618+1680787+2525515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Cytogenetic and molecular studies demonstrated that in Down syndrome associated with transient abnormal myelopoiesis, trisomy 21 had arisen much more frequently through mitotic (or meiosis II) nondisjunctions than through meiosis I errors (<a href="#6" class="mim-tip-reference" title="Shen, J. J., Williams, B. J., Zipursky, A., Doyle, J., Sherman, S. L., Jacobs, P. A., Shugar, A. L., Soukup, S. W., Hassold, T. J. <strong>Cytogenetic and molecular studies of Down syndrome individuals with leukemia.</strong> Am. J. Hum. Genet. 56: 915-925, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717402</a>]" pmid="7717402">Shen et al., 1995</a>). This supported the notion of 'disomic homozygosity' of a certain locus on chromosome 21 in 21-trisomic cells. In these patients there was no evidence of maternal age effect (<a href="#2" class="mim-tip-reference" title="Iselius, L., Jacobs, P., Morton, N. <strong>Leukaemia and transient leukaemia in Down syndrome.</strong> Hum. Genet. 85: 477-485, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2146208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2146208</a>] [<a href="https://doi.org/10.1007/BF00194220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2146208">Iselius et al., 1990</a>). Like <a href="#3" class="mim-tip-reference" title="Niikawa, N., Deng, H.-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y., Kuwano, A., Kajii, T. <strong>Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.</strong> Hum. Genet. 87: 561-566, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680787</a>] [<a href="https://doi.org/10.1007/BF00209012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680787">Niikawa et al. (1991)</a>, <a href="#6" class="mim-tip-reference" title="Shen, J. J., Williams, B. J., Zipursky, A., Doyle, J., Sherman, S. L., Jacobs, P. A., Shugar, A. L., Soukup, S. W., Hassold, T. J. <strong>Cytogenetic and molecular studies of Down syndrome individuals with leukemia.</strong> Am. J. Hum. Genet. 56: 915-925, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717402</a>]" pmid="7717402">Shen et al. (1995)</a> mapped the putative TAM gene to the pericentromeric region, 21q11.1-q11.2. In the 7-day-old male with Down syndrome and TAM reported by <a href="#3" class="mim-tip-reference" title="Niikawa, N., Deng, H.-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y., Kuwano, A., Kajii, T. <strong>Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.</strong> Hum. Genet. 87: 561-566, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680787</a>] [<a href="https://doi.org/10.1007/BF00209012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680787">Niikawa et al. (1991)</a>, <a href="#4" class="mim-tip-reference" title="Ohta, T., Nakano, M., Tsujita, T., Abe, K., Osoegawa, K., Yamagata, T., Yoshiura, K., Jinno, Y., Soeda, E., Nakamura, Y., Niikawa, N. <strong>Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.</strong> Am. J. Hum. Genet. 58: 544-550, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644714</a>]" pmid="8644714">Ohta et al. (1996)</a> isolated a cosmid clone corresponding to the inv(21) breakpoint, on the presumption that in this patient the putative TAM gene was disrupted by the break. The mother had the same inversion, and the father had a normal karyotype. The leukemoid reaction disappeared spontaneously several months after birth. <a href="#4" class="mim-tip-reference" title="Ohta, T., Nakano, M., Tsujita, T., Abe, K., Osoegawa, K., Yamagata, T., Yoshiura, K., Jinno, Y., Soeda, E., Nakamura, Y., Niikawa, N. <strong>Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.</strong> Am. J. Hum. Genet. 58: 544-550, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644714</a>]" pmid="8644714">Ohta et al. (1996)</a> noted there was no evidence of imprinting on chromosome 21; thus, they speculated that disruption of a putative TAM gene may be the basis of the abnormality. The existence of a fusion gene is unlikely because almost no cases of TAM in Down syndrome had been reported with a rearranged chromosome 21 such as was observed in this critical case. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1680787+2146208+8644714+7717402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Abe1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Abe, K., Kajii, T., Niikawa, N.
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<strong>Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome.</strong>
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Hum. Genet. 82: 313-316, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2525515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2525515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2525515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00273988" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Iselius1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Iselius, L., Jacobs, P., Morton, N.
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<strong>Leukaemia and transient leukaemia in Down syndrome.</strong>
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Hum. Genet. 85: 477-485, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2146208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2146208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2146208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00194220" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Niikawa1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Niikawa, N., Deng, H.-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y., Kuwano, A., Kajii, T.
|
|
<strong>Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.</strong>
|
|
Hum. Genet. 87: 561-566, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1680787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00209012" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Ohta1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ohta, T., Nakano, M., Tsujita, T., Abe, K., Osoegawa, K., Yamagata, T., Yoshiura, K., Jinno, Y., Soeda, E., Nakamura, Y., Niikawa, N.
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<strong>Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.</strong>
|
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Am. J. Hum. Genet. 58: 544-550, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Seibel1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seibel, N. L., Sommer, A., Miser, J.
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<strong>Transient neonatal leukemoid reactions in mosaic trisomy 21.</strong>
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J. Pediat. 104: 251-254, 1984.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6229618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6229618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6229618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(84)81006-9" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Shen1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shen, J. J., Williams, B. J., Zipursky, A., Doyle, J., Sherman, S. L., Jacobs, P. A., Shugar, A. L., Soukup, S. W., Hassold, T. J.
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<strong>Cytogenetic and molecular studies of Down syndrome individuals with leukemia.</strong>
|
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Am. J. Hum. Genet. 56: 915-925, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/18/1992
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</span>
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</div>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 03/17/2004
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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terry : 3/26/1996<br>mark : 3/6/1996<br>terry : 3/5/1996<br>mimadm : 12/2/1994<br>supermim : 3/16/1992<br>carol : 2/18/1992
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</span>
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</div>
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<span class="mim-font">
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<strong>%</strong> 159595
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MYELOPROLIFERATIVE SYNDROME, TRANSIENT
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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MST<br />
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LEUKEMIA, TRANSIENT<br />
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TRANSIENT ABNORMAL MYELOPOIESIS; TAM
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</span>
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</h4>
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</div>
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<br />
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<div>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 450934005, 721307000;
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<strong>ORPHA:</strong> 420611;
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<strong>DO:</strong> 0060888;
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<br />
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 21q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 21:13,000,001-15,000,000 </span>
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</em>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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21q11.2
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</span>
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<td>
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<span class="mim-font">
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Leukemia, transient, of Down syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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159595
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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2
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Transient myeloproliferative syndrome is a leukemoid reaction that occurs in some newborn infants with Down syndrome and rarely in phenotypically normal infants (Seibel et al., 1984). In 9 Down syndrome patients with transient myeloproliferative syndrome, Niikawa et al. (1991) found that the mode of inheritance of centromeric chromosomal markers was compatible with duplication of one parental chromosome 21. Therefore, they proposed a hypothesis of 'disomic homozygosity' of a mutant gene on chromosome 21 as the causative mechanism (Abe et al., 1989). Niikawa et al. (1991) observed a Down syndrome patient who had an inversion of one chromosome 21; by studies with DNA polymorphic markers in 5 other patients, they obtained results suggesting that the putative gene (which they symbolized TMS) was located at 21q11.2. </p><p>Cytogenetic and molecular studies demonstrated that in Down syndrome associated with transient abnormal myelopoiesis, trisomy 21 had arisen much more frequently through mitotic (or meiosis II) nondisjunctions than through meiosis I errors (Shen et al., 1995). This supported the notion of 'disomic homozygosity' of a certain locus on chromosome 21 in 21-trisomic cells. In these patients there was no evidence of maternal age effect (Iselius et al., 1990). Like Niikawa et al. (1991), Shen et al. (1995) mapped the putative TAM gene to the pericentromeric region, 21q11.1-q11.2. In the 7-day-old male with Down syndrome and TAM reported by Niikawa et al. (1991), Ohta et al. (1996) isolated a cosmid clone corresponding to the inv(21) breakpoint, on the presumption that in this patient the putative TAM gene was disrupted by the break. The mother had the same inversion, and the father had a normal karyotype. The leukemoid reaction disappeared spontaneously several months after birth. Ohta et al. (1996) noted there was no evidence of imprinting on chromosome 21; thus, they speculated that disruption of a putative TAM gene may be the basis of the abnormality. The existence of a fusion gene is unlikely because almost no cases of TAM in Down syndrome had been reported with a rearranged chromosome 21 such as was observed in this critical case. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Abe, K., Kajii, T., Niikawa, N.
|
|
<strong>Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome.</strong>
|
|
Hum. Genet. 82: 313-316, 1989.
|
|
|
|
|
|
[PubMed: 2525515]
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[Full Text: https://doi.org/10.1007/BF00273988]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Iselius, L., Jacobs, P., Morton, N.
|
|
<strong>Leukaemia and transient leukaemia in Down syndrome.</strong>
|
|
Hum. Genet. 85: 477-485, 1990.
|
|
|
|
|
|
[PubMed: 2146208]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00194220]
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</p>
|
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</li>
|
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<li>
|
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<p class="mim-text-font">
|
|
Niikawa, N., Deng, H.-X., Abe, K., Harada, N., Okada, T., Tsuchiya, H., Akaboshi, I., Matsuda, I., Fukushima, Y., Kaneko, Y., Kuwano, A., Kajii, T.
|
|
<strong>Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.</strong>
|
|
Hum. Genet. 87: 561-566, 1991.
|
|
|
|
|
|
[PubMed: 1680787]
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[Full Text: https://doi.org/10.1007/BF00209012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ohta, T., Nakano, M., Tsujita, T., Abe, K., Osoegawa, K., Yamagata, T., Yoshiura, K., Jinno, Y., Soeda, E., Nakamura, Y., Niikawa, N.
|
|
<strong>Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.</strong>
|
|
Am. J. Hum. Genet. 58: 544-550, 1996.
|
|
|
|
|
|
[PubMed: 8644714]
|
|
|
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Seibel, N. L., Sommer, A., Miser, J.
|
|
<strong>Transient neonatal leukemoid reactions in mosaic trisomy 21.</strong>
|
|
J. Pediat. 104: 251-254, 1984.
|
|
|
|
|
|
[PubMed: 6229618]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/s0022-3476(84)81006-9]
|
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</p>
|
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</li>
|
|
|
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<li>
|
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<p class="mim-text-font">
|
|
Shen, J. J., Williams, B. J., Zipursky, A., Doyle, J., Sherman, S. L., Jacobs, P. A., Shugar, A. L., Soukup, S. W., Hassold, T. J.
|
|
<strong>Cytogenetic and molecular studies of Down syndrome individuals with leukemia.</strong>
|
|
Am. J. Hum. Genet. 56: 915-925, 1995.
|
|
|
|
|
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[PubMed: 7717402]
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Victor A. McKusick : 2/18/1992
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