Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome
Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal defor...
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| Veröffentlicht in: | Journal of the Association of Physicians of India 2013-04, Vol.61 (4), p.283-284 |
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| container_title | Journal of the Association of Physicians of India |
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| creator | Basu, Asish Kumar Paul, Rudrajit Bandyopadhyay, Ramtanu Chakrabarti, Srabani |
| description | Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X. |
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These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X.</description><identifier>ISSN: 0004-5772</identifier><identifier>PMID: 24482972</identifier><language>eng</language><publisher>India</publisher><subject>Adolescent ; Chromosomes, Human, X - genetics ; Female ; Gonadal Dysgenesis - diagnosis ; Gonadal Dysgenesis - etiology ; Humans ; Isochromosomes - genetics ; Karyotyping</subject><ispartof>Journal of the Association of Physicians of India, 2013-04, Vol.61 (4), p.283-284</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24482972$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Basu, Asish Kumar</creatorcontrib><creatorcontrib>Paul, Rudrajit</creatorcontrib><creatorcontrib>Bandyopadhyay, Ramtanu</creatorcontrib><creatorcontrib>Chakrabarti, Srabani</creatorcontrib><title>Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome</title><title>Journal of the Association of Physicians of India</title><addtitle>J Assoc Physicians India</addtitle><description>Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X.</description><subject>Adolescent</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Female</subject><subject>Gonadal Dysgenesis - diagnosis</subject><subject>Gonadal Dysgenesis - etiology</subject><subject>Humans</subject><subject>Isochromosomes - genetics</subject><subject>Karyotyping</subject><issn>0004-5772</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkLFOwzAURT2AaCn8AvLIEsn2s-N4RBUUpCIWkNgiJ3kuQXFesZOhf08RRUz3DkdHV_eMLYUQujDWqgW7zPlTCHAA6oItlNaVclYt2fOGRt_5gXeHvMMRc595NyOfiPeZ2o9EkTJF5IFS9FNPI6fABxp33Kf409_5P3XFzoMfMl6fcsXeHu5f14_F9mXztL7bFnupyqkAVJVFJ42vbGWFF8YYqZQDBRJUE7rj0tbZ0nhrQnCuDJ0vpW7AodECEFbs9te7T_Q1Y57q2OcWh8GPSHOupXYaRKkqd0RvTujcROzqfeqjT4f67wL4BtLuVas</recordid><startdate>201304</startdate><enddate>201304</enddate><creator>Basu, Asish Kumar</creator><creator>Paul, Rudrajit</creator><creator>Bandyopadhyay, Ramtanu</creator><creator>Chakrabarti, Srabani</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201304</creationdate><title>Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome</title><author>Basu, Asish Kumar ; Paul, Rudrajit ; Bandyopadhyay, Ramtanu ; Chakrabarti, Srabani</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p126t-3e287e915a87870a05551229323132bfd003c9765a75ff996fda614b39e5403e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Female</topic><topic>Gonadal Dysgenesis - diagnosis</topic><topic>Gonadal Dysgenesis - etiology</topic><topic>Humans</topic><topic>Isochromosomes - genetics</topic><topic>Karyotyping</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Basu, Asish Kumar</creatorcontrib><creatorcontrib>Paul, Rudrajit</creatorcontrib><creatorcontrib>Bandyopadhyay, Ramtanu</creatorcontrib><creatorcontrib>Chakrabarti, Srabani</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the Association of Physicians of India</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Basu, Asish Kumar</au><au>Paul, Rudrajit</au><au>Bandyopadhyay, Ramtanu</au><au>Chakrabarti, Srabani</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome</atitle><jtitle>Journal of the Association of Physicians of India</jtitle><addtitle>J Assoc Physicians India</addtitle><date>2013-04</date><risdate>2013</risdate><volume>61</volume><issue>4</issue><spage>283</spage><epage>284</epage><pages>283-284</pages><issn>0004-5772</issn><abstract>Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X.</abstract><cop>India</cop><pmid>24482972</pmid><tpages>2</tpages></addata></record> |
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| ispartof | Journal of the Association of Physicians of India, 2013-04, Vol.61 (4), p.283-284 |
| issn | 0004-5772 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adolescent Chromosomes, Human, X - genetics Female Gonadal Dysgenesis - diagnosis Gonadal Dysgenesis - etiology Humans Isochromosomes - genetics Karyotyping |
| title | Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome |
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