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A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion
Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive...
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Published in: | Journal of reproduction & infertility 2023-10, Vol.24 (4), p.293-300 |
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creator | Patel, Sunny Kumar Jignesh Kumar Kabir, Rahul Nayak, Ruchismita Palo, Indira Banerjee, Birendranath |
description | Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive technology; nevertheless, there is a potential risk of transmission of azoospermia factor (AZF) microdeletions in addition to 45,X to all the male progeny. In this case report, the purpose was to present a rare sex chromosomal mosaicism of an infertile man.
Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations.
Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility. |
doi_str_mv | 10.18502/jri.v24i4.14157 |
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Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations.
Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility.</description><identifier>ISSN: 2228-5482</identifier><identifier>EISSN: 2251-676X</identifier><identifier>DOI: 10.18502/jri.v24i4.14157</identifier><identifier>PMID: 38164427</identifier><language>eng</language><publisher>Iran: Office for Scientific Journals</publisher><subject>Case Report ; Case studies ; Cytogenetics ; Deletion ; Genetic analysis ; Hybridization ; Infertility ; Karyotypes ; Males ; Mosaicism ; Phenotypes ; Reproductive technologies ; Semen ; Sex ; Sex chromosomes ; Y chromosomes</subject><ispartof>Journal of reproduction & infertility, 2023-10, Vol.24 (4), p.293-300</ispartof><rights>Copyright© 2023, Avicenna Research Institute.</rights><rights>Copyright Office for Scientific Journals 2023</rights><rights>Copyright© 2023, Avicenna Research Institute. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10757685/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10757685/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,733,786,790,891,27957,27958,53827,53829</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38164427$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Patel, Sunny Kumar Jignesh Kumar</creatorcontrib><creatorcontrib>Kabir, Rahul</creatorcontrib><creatorcontrib>Nayak, Ruchismita</creatorcontrib><creatorcontrib>Palo, Indira</creatorcontrib><creatorcontrib>Banerjee, Birendranath</creatorcontrib><title>A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion</title><title>Journal of reproduction & infertility</title><addtitle>J Reprod Infertil</addtitle><description>Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive technology; nevertheless, there is a potential risk of transmission of azoospermia factor (AZF) microdeletions in addition to 45,X to all the male progeny. In this case report, the purpose was to present a rare sex chromosomal mosaicism of an infertile man.
Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations.
Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility.</description><subject>Case Report</subject><subject>Case studies</subject><subject>Cytogenetics</subject><subject>Deletion</subject><subject>Genetic analysis</subject><subject>Hybridization</subject><subject>Infertility</subject><subject>Karyotypes</subject><subject>Males</subject><subject>Mosaicism</subject><subject>Phenotypes</subject><subject>Reproductive technologies</subject><subject>Semen</subject><subject>Sex</subject><subject>Sex chromosomes</subject><subject>Y chromosomes</subject><issn>2228-5482</issn><issn>2251-676X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNpVkd1KXDEQx0OxVLHe90oC3ijsWZOcfF7JsthWUAqlhfUq5OTDzbLnxE3OKn2BPkAfsU_SdLVi52ImzMc_M_wA-IDRFEuGyPkqx-kDoZFOMcVMvAEHhDDccMEXe3_fRDaMSrIPjkpZoWpKYdKqd2C_lZhTSsQBWM3gV5M9nJviYQqQssninPLJYuL8-vT27HSDye-fvzajz2fwJhUTbSw9jAOcDfBqCD6Pce3hjanuMY5LeAvny5z6VFJf09HmVIX8GNPwHrwNZl380XM8BN8_Xn6bf26uv3y6ms-uG0uwHJvOCo6N8KhzlihljSLOudYa2zEZMAkdd066gBF2UnnGnelMJwXmAakWhfYQXDzp3m-73jvrhzGbtb7PsTf5h04m6v8rQ1zqu_SgMRJMcMmqwsmzQk6brS-jXqVtHurSmijcilZRKWsXeuqqN5aSfXj5AiO9I6QrIb0jpHeE6sjx69VeBv7xaP8AxEiN3g</recordid><startdate>20231001</startdate><enddate>20231001</enddate><creator>Patel, Sunny Kumar Jignesh Kumar</creator><creator>Kabir, Rahul</creator><creator>Nayak, Ruchismita</creator><creator>Palo, Indira</creator><creator>Banerjee, Birendranath</creator><general>Office for Scientific Journals</general><general>Avicenna Research Institute</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QO</scope><scope>7T5</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>CWDGH</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PADUT</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>5PM</scope></search><sort><creationdate>20231001</creationdate><title>A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion</title><author>Patel, Sunny Kumar Jignesh Kumar ; Kabir, Rahul ; Nayak, Ruchismita ; Palo, Indira ; Banerjee, Birendranath</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c218t-bc761a7e0bdc299ca92ddd3cacb58f12fb6dd8df101d89e56dabab8716f0930f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Case Report</topic><topic>Case studies</topic><topic>Cytogenetics</topic><topic>Deletion</topic><topic>Genetic analysis</topic><topic>Hybridization</topic><topic>Infertility</topic><topic>Karyotypes</topic><topic>Males</topic><topic>Mosaicism</topic><topic>Phenotypes</topic><topic>Reproductive technologies</topic><topic>Semen</topic><topic>Sex</topic><topic>Sex chromosomes</topic><topic>Y chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Patel, Sunny Kumar Jignesh Kumar</creatorcontrib><creatorcontrib>Kabir, Rahul</creatorcontrib><creatorcontrib>Nayak, Ruchismita</creatorcontrib><creatorcontrib>Palo, Indira</creatorcontrib><creatorcontrib>Banerjee, Birendranath</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Immunology Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Middle East & Africa Database</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>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest Research Library</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Research Library China</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>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of reproduction & infertility</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Patel, Sunny Kumar Jignesh Kumar</au><au>Kabir, Rahul</au><au>Nayak, Ruchismita</au><au>Palo, Indira</au><au>Banerjee, Birendranath</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion</atitle><jtitle>Journal of reproduction & infertility</jtitle><addtitle>J Reprod Infertil</addtitle><date>2023-10-01</date><risdate>2023</risdate><volume>24</volume><issue>4</issue><spage>293</spage><epage>300</epage><pages>293-300</pages><issn>2228-5482</issn><eissn>2251-676X</eissn><abstract>Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive technology; nevertheless, there is a potential risk of transmission of azoospermia factor (AZF) microdeletions in addition to 45,X to all the male progeny. In this case report, the purpose was to present a rare sex chromosomal mosaicism of an infertile man.
Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations.
Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility.</abstract><cop>Iran</cop><pub>Office for Scientific Journals</pub><pmid>38164427</pmid><doi>10.18502/jri.v24i4.14157</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Case Report Case studies Cytogenetics Deletion Genetic analysis Hybridization Infertility Karyotypes Males Mosaicism Phenotypes Reproductive technologies Semen Sex Sex chromosomes Y chromosomes |
title | A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion |
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