A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences
Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to rep...
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Veröffentlicht in: | Journal of assisted reproduction and genetics 2017-05, Vol.34 (5), p.659-669 |
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creator | Trpchevska, Natalia Dimova, Ivanka Arabadji, Tatyana Milachich, Tanya Angelova, Svetlana Dimitrova, Magdalena Hristova-Savova, Mariela Andreeva, Petya Timeva, Tania Shterev, Atanas |
description | Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences. |
doi_str_mv | 10.1007/s10815-017-0893-7 |
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A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-017-0893-7</identifier><identifier>PMID: 28236108</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Banding ; Breakpoints ; Chromosome Aberrations ; Chromosome Banding ; Chromosome rearrangements ; Chromosome translocations ; Chromosomes ; Chromosomes, Human, Pair 1 - genetics ; Chromosomes, Human, Pair 11 - genetics ; Chromosomes, Human, Pair 8 - genetics ; Cytogenetic Analysis - methods ; Female ; Genetic counseling ; Genetic screening ; Genetics ; Gynecology ; Human Genetics ; Humans ; In Situ Hybridization, Fluorescence - methods ; Karyotyping ; Male ; Medicine ; Medicine & Public Health ; Meiosis ; Pedigree ; Reproduction - genetics ; Reproductive failure ; Reproductive Medicine ; Segregations ; Translocation ; Translocation, Genetic - genetics</subject><ispartof>Journal of assisted reproduction and genetics, 2017-05, Vol.34 (5), p.659-669</ispartof><rights>Springer Science+Business Media New York 2017</rights><rights>Journal of Assisted Reproduction and Genetics is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c470t-b5d20bbcbf866d75b8bd80d5dcc2bf319d37fd8672537936e7d3229a6b6e49673</citedby><cites>FETCH-LOGICAL-c470t-b5d20bbcbf866d75b8bd80d5dcc2bf319d37fd8672537936e7d3229a6b6e49673</cites><orcidid>0000-0002-6688-801X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427656/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427656/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27925,27926,41489,42558,51320,53792,53794</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28236108$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Trpchevska, Natalia</creatorcontrib><creatorcontrib>Dimova, Ivanka</creatorcontrib><creatorcontrib>Arabadji, Tatyana</creatorcontrib><creatorcontrib>Milachich, Tanya</creatorcontrib><creatorcontrib>Angelova, Svetlana</creatorcontrib><creatorcontrib>Dimitrova, Magdalena</creatorcontrib><creatorcontrib>Hristova-Savova, Mariela</creatorcontrib><creatorcontrib>Andreeva, Petya</creatorcontrib><creatorcontrib>Timeva, Tania</creatorcontrib><creatorcontrib>Shterev, Atanas</creatorcontrib><title>A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><addtitle>J Assist Reprod Genet</addtitle><description>Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.</description><subject>Banding</subject><subject>Breakpoints</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosome rearrangements</subject><subject>Chromosome translocations</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Cytogenetic Analysis - methods</subject><subject>Female</subject><subject>Genetic counseling</subject><subject>Genetic screening</subject><subject>Genetics</subject><subject>Gynecology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence - methods</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Meiosis</subject><subject>Pedigree</subject><subject>Reproduction - genetics</subject><subject>Reproductive failure</subject><subject>Reproductive Medicine</subject><subject>Segregations</subject><subject>Translocation</subject><subject>Translocation, Genetic - genetics</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp1UclKBDEUDKK4f4AXCXi1Nctk6Ysg4gaCFz2HbD22dCdj0j06f2_GURkPnurBq6pXvALgCKMzjJA4zxhJzCqERYVkTSuxAXYxE2WgFG2WGTFZoQmXO2Av51eEUC0J3QY7pAAv4l3wfgkb3bfdAuZhdAsYG2hjP-v8B7QvKfYxx97D5HVKOkx978MA2zCP3bwN0zVKhvgUylOog4MYf0E75CKcpehGO7RzX4xD9m-jD9bnA7DV6C77w2_cB883109Xd9XD4-391eVDZScCDZVhjiBjrGkk504wI42TyDFnLTENxbWjonGSC8KoqCn3wlFCas0N95OaC7oPLla-s9H03tmSP-lOzVLb67RQUbfq7ya0L2oa54pNiOCMF4OTb4MUS_Y8qNc4plAyKyzrWpQG5JKFVyybYs7JN78XMFLLrtSqK1W6Usuu1DLa8Xq0X8VPOYVAVoRcVuX5ae30v66fbbGhuA</recordid><startdate>20170501</startdate><enddate>20170501</enddate><creator>Trpchevska, Natalia</creator><creator>Dimova, Ivanka</creator><creator>Arabadji, Tatyana</creator><creator>Milachich, Tanya</creator><creator>Angelova, Svetlana</creator><creator>Dimitrova, Magdalena</creator><creator>Hristova-Savova, Mariela</creator><creator>Andreeva, Petya</creator><creator>Timeva, Tania</creator><creator>Shterev, Atanas</creator><general>Springer US</general><general>Springer Nature B.V</general><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-6688-801X</orcidid></search><sort><creationdate>20170501</creationdate><title>A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences</title><author>Trpchevska, Natalia ; Dimova, Ivanka ; Arabadji, Tatyana ; Milachich, Tanya ; Angelova, Svetlana ; Dimitrova, Magdalena ; Hristova-Savova, Mariela ; Andreeva, Petya ; Timeva, Tania ; Shterev, Atanas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c470t-b5d20bbcbf866d75b8bd80d5dcc2bf319d37fd8672537936e7d3229a6b6e49673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Banding</topic><topic>Breakpoints</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosome rearrangements</topic><topic>Chromosome translocations</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Cytogenetic Analysis - methods</topic><topic>Female</topic><topic>Genetic counseling</topic><topic>Genetic screening</topic><topic>Genetics</topic><topic>Gynecology</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence - methods</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Meiosis</topic><topic>Pedigree</topic><topic>Reproduction - genetics</topic><topic>Reproductive failure</topic><topic>Reproductive Medicine</topic><topic>Segregations</topic><topic>Translocation</topic><topic>Translocation, Genetic - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Trpchevska, Natalia</creatorcontrib><creatorcontrib>Dimova, Ivanka</creatorcontrib><creatorcontrib>Arabadji, Tatyana</creatorcontrib><creatorcontrib>Milachich, Tanya</creatorcontrib><creatorcontrib>Angelova, Svetlana</creatorcontrib><creatorcontrib>Dimitrova, Magdalena</creatorcontrib><creatorcontrib>Hristova-Savova, Mariela</creatorcontrib><creatorcontrib>Andreeva, Petya</creatorcontrib><creatorcontrib>Timeva, Tania</creatorcontrib><creatorcontrib>Shterev, Atanas</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of assisted reproduction and genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Trpchevska, Natalia</au><au>Dimova, Ivanka</au><au>Arabadji, Tatyana</au><au>Milachich, Tanya</au><au>Angelova, Svetlana</au><au>Dimitrova, Magdalena</au><au>Hristova-Savova, Mariela</au><au>Andreeva, Petya</au><au>Timeva, Tania</au><au>Shterev, Atanas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><addtitle>J Assist Reprod Genet</addtitle><date>2017-05-01</date><risdate>2017</risdate><volume>34</volume><issue>5</issue><spage>659</spage><epage>669</epage><pages>659-669</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>28236108</pmid><doi>10.1007/s10815-017-0893-7</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-6688-801X</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Banding Breakpoints Chromosome Aberrations Chromosome Banding Chromosome rearrangements Chromosome translocations Chromosomes Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 8 - genetics Cytogenetic Analysis - methods Female Genetic counseling Genetic screening Genetics Gynecology Human Genetics Humans In Situ Hybridization, Fluorescence - methods Karyotyping Male Medicine Medicine & Public Health Meiosis Pedigree Reproduction - genetics Reproductive failure Reproductive Medicine Segregations Translocation Translocation, Genetic - genetics |
title | A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences |
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