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Ring chromosome X in a child with manifestations of Kabuki syndrome
A female patient with the karyotype 45, X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome‐derived sequ...
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Published in: | American journal of medical genetics 1997-05, Vol.70 (1), p.37-42 |
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description | A female patient with the karyotype 45, X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome‐derived sequences might be associated with the Kabuki‐like phenotype observed. The nature and parental origin of this small‐ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR‐based genotyping demonstrated heterozygosity at X‐linked loci SBMA (Xq11‐q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR‐49 (Xp21.2), DXS1003 (Xp 11.23), DXS988 (Xp 11.21), DXS101 (Xq21.3), FMR‐1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT‐PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small‐ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X). Am. J. Med. Genet. 70:37–42, 1997. © 1997 Wiley‐Liss, Inc. |
doi_str_mv | 10.1002/(SICI)1096-8628(19970502)70:1<37::AID-AJMG8>3.0.CO;2-O |
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We hypothesized that overexpression of X chromosome‐derived sequences might be associated with the Kabuki‐like phenotype observed. The nature and parental origin of this small‐ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR‐based genotyping demonstrated heterozygosity at X‐linked loci SBMA (Xq11‐q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR‐49 (Xp21.2), DXS1003 (Xp 11.23), DXS988 (Xp 11.21), DXS101 (Xq21.3), FMR‐1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT‐PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small‐ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X). Am. J. Med. Genet. 70:37–42, 1997. © 1997 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19970502)70:1<37::AID-AJMG8>3.0.CO;2-O</identifier><identifier>PMID: 9129739</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Biological and medical sciences ; Child ; Chromosome Mapping ; Complex syndromes ; Face - abnormalities ; Female ; Genetic Markers ; Genomic Imprinting ; Genotype ; Heterozygote ; Humans ; Kabuki syndrome ; Karyotyping ; Male ; Medical genetics ; Medical sciences ; Microsatellite Repeats ; Polymerase Chain Reaction ; ring chromosome ; Ring Chromosomes ; X Chromosome ; XIST</subject><ispartof>American journal of medical genetics, 1997-05, Vol.70 (1), p.37-42</ispartof><rights>Copyright © 1997 Wiley‐Liss, Inc.</rights><rights>1997 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3478-aec76e79564820fa9e8179a74722db68cee2b74f2b2af2c9c27ad2f0f6da97373</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2658300$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9129739$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>McGinniss, Matthew J.</creatorcontrib><creatorcontrib>Brown, David H.</creatorcontrib><creatorcontrib>Burke, Leah W.</creatorcontrib><creatorcontrib>Mascarello, James T.</creatorcontrib><creatorcontrib>Jones, Marilyn C.</creatorcontrib><title>Ring chromosome X in a child with manifestations of Kabuki syndrome</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>A female patient with the karyotype 45, X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome‐derived sequences might be associated with the Kabuki‐like phenotype observed. The nature and parental origin of this small‐ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR‐based genotyping demonstrated heterozygosity at X‐linked loci SBMA (Xq11‐q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR‐49 (Xp21.2), DXS1003 (Xp 11.23), DXS988 (Xp 11.21), DXS101 (Xq21.3), FMR‐1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT‐PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small‐ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X). Am. J. Med. Genet. 70:37–42, 1997. © 1997 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosome Mapping</subject><subject>Complex syndromes</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>Genomic Imprinting</subject><subject>Genotype</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Kabuki syndrome</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Polymerase Chain Reaction</subject><subject>ring chromosome</subject><subject>Ring Chromosomes</subject><subject>X Chromosome</subject><subject>XIST</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><recordid>eNqFkE1vEzEQhi0EKqHlJyD5gFB72GB7P2yHqlK0kJBSWEGg7W3k9drU7X6UdaKSf4_DhlxA4jTSzDuvHj0InVEypoSw18fLRb44oURmkciYOKZScpISdsLJhJ7GfDKZLt5G0_OPc3EWj8k4L96wqHiERvuXx2hEaCIizqR8ip55f0sIDQt2gA4kZZLHcoTyL679jvVN3zWd7xqDr7FrsQobV1f4wa1ucKNaZ41fqZXrWo87iz-ocn3nsN-0VfgzR-iJVbU3z3fzEH2bvfuav48uivkin15EOk64iJTRPDNcpllgIFZJIyiXiiecsarMhDaGlTyxrGTKMi0146piltisUgGWx4fo1dB733c_1oEIGue1qWvVmm7tgQvJE5HKELwcgrrvvO-NhfveNarfACWwtQuwtQtbVbBVBX_sAg8BiDlAsAu_7UIMBPICGBSh-MWOYF02ptrX7nSG-8vdXXmtaturVju_j7EsFTEhIXY1xB5cbTZ_wf2P7V9owyI0R0Oz8yvzc9-s-jvIgsIUrj7NYbacXdLl52tI419D3rEI</recordid><startdate>19970502</startdate><enddate>19970502</enddate><creator>McGinniss, Matthew J.</creator><creator>Brown, David H.</creator><creator>Burke, Leah W.</creator><creator>Mascarello, James T.</creator><creator>Jones, Marilyn C.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19970502</creationdate><title>Ring chromosome X in a child with manifestations of Kabuki syndrome</title><author>McGinniss, Matthew J. ; Brown, David H. ; Burke, Leah W. ; Mascarello, James T. ; Jones, Marilyn C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3478-aec76e79564820fa9e8179a74722db68cee2b74f2b2af2c9c27ad2f0f6da97373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosome Mapping</topic><topic>Complex syndromes</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>Genomic Imprinting</topic><topic>Genotype</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Kabuki syndrome</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Polymerase Chain Reaction</topic><topic>ring chromosome</topic><topic>Ring Chromosomes</topic><topic>X Chromosome</topic><topic>XIST</topic><toplevel>online_resources</toplevel><creatorcontrib>McGinniss, Matthew J.</creatorcontrib><creatorcontrib>Brown, David H.</creatorcontrib><creatorcontrib>Burke, Leah W.</creatorcontrib><creatorcontrib>Mascarello, James T.</creatorcontrib><creatorcontrib>Jones, Marilyn C.</creatorcontrib><collection>Istex</collection><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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McGinniss, Matthew J.</au><au>Brown, David H.</au><au>Burke, Leah W.</au><au>Mascarello, James T.</au><au>Jones, Marilyn C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ring chromosome X in a child with manifestations of Kabuki syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1997-05-02</date><risdate>1997</risdate><volume>70</volume><issue>1</issue><spage>37</spage><epage>42</epage><pages>37-42</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>A female patient with the karyotype 45, X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome‐derived sequences might be associated with the Kabuki‐like phenotype observed. The nature and parental origin of this small‐ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR‐based genotyping demonstrated heterozygosity at X‐linked loci SBMA (Xq11‐q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR‐49 (Xp21.2), DXS1003 (Xp 11.23), DXS988 (Xp 11.21), DXS101 (Xq21.3), FMR‐1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT‐PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small‐ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X). Am. J. Med. Genet. 70:37–42, 1997. © 1997 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>9129739</pmid><doi>10.1002/(SICI)1096-8628(19970502)70:1<37::AID-AJMG8>3.0.CO;2-O</doi><tpages>6</tpages></addata></record> |
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subjects | Abnormalities, Multiple - genetics Biological and medical sciences Child Chromosome Mapping Complex syndromes Face - abnormalities Female Genetic Markers Genomic Imprinting Genotype Heterozygote Humans Kabuki syndrome Karyotyping Male Medical genetics Medical sciences Microsatellite Repeats Polymerase Chain Reaction ring chromosome Ring Chromosomes X Chromosome XIST |
title | Ring chromosome X in a child with manifestations of Kabuki syndrome |
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