Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization
Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patien...
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Veröffentlicht in: | Human genetics 1993-07, Vol.91 (6), p.589-598 |
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container_title | Human genetics |
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creator | PLATTNER, R HEEREMA, N. A HOWARD-PEEBLES, P. N MILES, J. H SOUKUP, S PALMER, C. G |
description | Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature. |
doi_str_mv | 10.1007/BF00205086 |
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A</creatorcontrib><creatorcontrib>HOWARD-PEEBLES, P. N</creatorcontrib><creatorcontrib>MILES, J. H</creatorcontrib><creatorcontrib>SOUKUP, S</creatorcontrib><creatorcontrib>PALMER, C. G</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PLATTNER, R</au><au>HEEREMA, N. A</au><au>HOWARD-PEEBLES, P. N</au><au>MILES, J. H</au><au>SOUKUP, S</au><au>PALMER, C. G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1993-07-01</date><risdate>1993</risdate><volume>91</volume><issue>6</issue><spage>589</spage><epage>598</epage><pages>589-598</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>8340114</pmid><doi>10.1007/BF00205086</doi><tpages>10</tpages></addata></record> |
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source | MEDLINE; Springer Journals |
subjects | Adult Biological and medical sciences Child, Preschool Chromosome Aberrations clinical aspects Congenital Abnormalities - genetics DNA Probes DNA, Satellite Female fluorescence in situ hybridization Genetic Markers Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male man marker chromosomes Medical genetics Medical sciences Pregnancy Prenatal Diagnosis Ring Chromosomes Risk |
title | Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization |
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