Segregation of an X ring chromosome in two generations
A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the...
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| Veröffentlicht in: | Journal of medical genetics 1980-08, Vol.17 (4), p.306-308 |
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| container_title | Journal of medical genetics |
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| creator | Dallapiccola, B Bruni, L Boscherini, B Pasquino, A M Chessa, L Vignetti, P |
| description | A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq. |
| doi_str_mv | 10.1136/jmg.17.4.306 |
| format | Article |
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Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.17.4.306</identifier><identifier>PMID: 7205906</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Breakpoints ; Chromosome Aberrations ; Chromosomes ; Dermatoglyphics ; Female ; Heterozygotes ; Humans ; Karyotyping ; Mosaicism ; Pedigree ; Research Article ; Sex Chromosomes - ultrastructure ; X Chromosome - ultrastructure</subject><ispartof>Journal of medical genetics, 1980-08, Vol.17 (4), p.306-308</ispartof><rights>Copyright BMJ Publishing Group LTD Aug 1980</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b4536-f1151c1fce9fb7682dc478934a16f3b03a518f22c91451f82acba7d29a242f273</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048575/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1048575/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7205906$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dallapiccola, B</creatorcontrib><creatorcontrib>Bruni, L</creatorcontrib><creatorcontrib>Boscherini, B</creatorcontrib><creatorcontrib>Pasquino, A M</creatorcontrib><creatorcontrib>Chessa, L</creatorcontrib><creatorcontrib>Vignetti, P</creatorcontrib><title>Segregation of an X ring chromosome in two generations</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><addtitle>J Med Genet</addtitle><description>A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq.</description><subject>Breakpoints</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes</subject><subject>Dermatoglyphics</subject><subject>Female</subject><subject>Heterozygotes</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Mosaicism</subject><subject>Pedigree</subject><subject>Research Article</subject><subject>Sex Chromosomes - ultrastructure</subject><subject>X Chromosome - ultrastructure</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1980</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0UtvEzEUBWALUZW0sGOLNBISZcEEX79ng4QiCJWqovIo7CyPY08nZOxiT3j8e9wmSilCsJrF-Xw81xehh4CnAFQ8Xw7dFOSUTSkWd9AEmFC1IIzdRROMCakJb-g9dJDzEmOgEsQ-2pcE8waLCRLvXZdcZ8Y-hir6yoTqc5X60FX2IsUh5ji4qg_V-D1WnQsuXct8H-15s8ruwfZ7iD6-fvVh9qY-eTs_nr08qVvGqag9AAcL3rrGt1IosrBMqoYyA8LTFlPDQXlCbAOMg1fE2NbIBWkMYcQTSQ_Ri03v5bod3MK6MCaz0pepH0z6qaPp9e0k9Be6i980YKa45KXgybYgxa9rl0c99Nm61coEF9dZS86KakiBj_-Ay7hOoQyny7sqCQw4-5cCKTEXWCko6tlG2RRzTs7vfhiwvtqZLjsrBzS76i780e9D7vB2SSWvN3mfR_djF5v0RQtJJden5zN9dgrn8_nZJ_2u-KONb4fl_25-eiNvJvkb_QViS7kS</recordid><startdate>19800801</startdate><enddate>19800801</enddate><creator>Dallapiccola, B</creator><creator>Bruni, L</creator><creator>Boscherini, B</creator><creator>Pasquino, A M</creator><creator>Chessa, L</creator><creator>Vignetti, P</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</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>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19800801</creationdate><title>Segregation of an X ring chromosome in two generations</title><author>Dallapiccola, B ; Bruni, L ; Boscherini, B ; Pasquino, A M ; Chessa, L ; Vignetti, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b4536-f1151c1fce9fb7682dc478934a16f3b03a518f22c91451f82acba7d29a242f273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1980</creationdate><topic>Breakpoints</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes</topic><topic>Dermatoglyphics</topic><topic>Female</topic><topic>Heterozygotes</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Mosaicism</topic><topic>Pedigree</topic><topic>Research Article</topic><topic>Sex Chromosomes - ultrastructure</topic><topic>X Chromosome - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dallapiccola, B</creatorcontrib><creatorcontrib>Bruni, L</creatorcontrib><creatorcontrib>Boscherini, B</creatorcontrib><creatorcontrib>Pasquino, A M</creatorcontrib><creatorcontrib>Chessa, L</creatorcontrib><creatorcontrib>Vignetti, P</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dallapiccola, B</au><au>Bruni, L</au><au>Boscherini, B</au><au>Pasquino, A M</au><au>Chessa, L</au><au>Vignetti, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Segregation of an X ring chromosome in two generations</atitle><jtitle>Journal of medical genetics</jtitle><stitle>J Med Genet</stitle><addtitle>J Med Genet</addtitle><date>1980-08-01</date><risdate>1980</risdate><volume>17</volume><issue>4</issue><spage>306</spage><epage>308</epage><pages>306-308</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7205906</pmid><doi>10.1136/jmg.17.4.306</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Breakpoints Chromosome Aberrations Chromosomes Dermatoglyphics Female Heterozygotes Humans Karyotyping Mosaicism Pedigree Research Article Sex Chromosomes - ultrastructure X Chromosome - ultrastructure |
| title | Segregation of an X ring chromosome in two generations |
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