{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:13:40Z","timestamp":1790810020081,"version":"4.1.0"},"reference-count":17,"publisher":"Scientific Scholar","content-domain":{"domain":["ijmr.org.in"],"crossmark-restriction":true},"short-container-title":["Indian J Med Res"],"abstract":"\n Background and objectives<\/jats:title>\n \n Turner syndrome is an X-chromosome aneuploidy which include classic monosomy-X and variants like mosaicism, isochromosome-Xq,\n etc<\/jats:italic>\n . It is diagnosed by karyotyping, which is time-staking, laborious and costly. Quantitative real-time PCR (qPCR) offers a faster and cheaper alternative testing strategy, but single- or dual-primer qPCR may miss some variants. This proof-of-concept study was conducted to evaluate multi-primer qPCR in detecting various karyotypes of Turner syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Genomic DNA was extracted from 50 cases with Turner syndrome (45,X=23; 45,X\/46, XX=10; isochromosome-Xq=12; 45, X\/46, XY=5), 25 control females (46,XX), and 5 males (46,XY). DNA was analysed using fast qPCR with 4 primers targeting Xp-genes (\n SHOX<\/jats:italic>\n ,\n ARSE<\/jats:italic>\n ) and Xq-genes (\n VAMP7<\/jats:italic>\n ,\n XIST<\/jats:italic>\n ). The \u0394\u0394CT method calculated gene dose relative to 46,XX females, with\n HBB<\/jats:italic>\n being the housekeeping gene. Gene cut-offs were ascertained by receiver \u2013operator-curve (ROC) analysis. This was followed by developing an algorithm for detecting classical and non-classical Turner syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Using the criteria\n SHOX<\/jats:italic>\n <0.752 \u201cOR\u201d\n ARSE<\/jats:italic>\n <0.885, all the cases of Turner syndrome were detected with 100% sensitivity and 93.3% specificity.\n VAMP7<\/jats:italic>\n >0.723 detected isochromosome-Xq- Turner syndrome with 87.9% sensitivity, and 72.7% specificity. SHOX < 0.511 differentiated classic Turner syndrome from 45,X\/46,XX mosaics with a 70% sensitivity, and 78.3% specificity. Our qPCR-based algorithm showed near-perfect agreement (Cohen\u2019s\n k<\/jats:italic>\n =0.81) with 100-cell karyotyping, identifying 14 of 15 Turner syndrome cases with low-level mosaicism missed by 30-cell-karyotyping.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation and conclusions<\/jats:title>\n A qPCR-based algorithm can be used for the rapid detection of classic and non-classic Turner syndrome, pending further validation studies. However, it cannot detect ring-chromosomes, mosaic-polyploidy and is inadequate to pinpoint the karyotypic subtype of Turner syndrome.<\/jats:p>\n <\/jats:sec>","DOI":"10.25259\/ijmr_2515_2025","type":"journal-article","created":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T12:14:33Z","timestamp":1779020073000},"page":"569-576","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome"],"prefix":"10.25259","volume":"163","author":[{"given":"Chiranjit","family":"Bose","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunetra","family":"Mondal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chinmay","family":"Saha","sequence":"additional","affiliation":[{"name":"Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilanjan","family":"Sengupta","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitai Pada","family":"Bhattacharyya","sequence":"additional","affiliation":[{"name":"Division of Crystallography and Molecular Biology, Saha Institute of Nuclear Physics, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satinath","family":"Mukhopadhyay","sequence":"additional","affiliation":[{"name":"Department of Research, InBOL Healthcare Educational Centre, Kolkata, West Bengal, India"},{"name":"Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2026,5,16]]},"reference":[{"key":"10.25259\/IJMR_2515_2025\/ref-1","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/s41574-019-0224-4","article-title":"Turner syndrome: Mechanisms and management","volume":"15","author":"Gravholt","year":"2019","journal-title":"Nat Rev Endocrinol."},{"key":"10.25259\/IJMR_2515_2025\/ref-2","doi-asserted-by":"publisher","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with turner syndrome: Proceedings from the 2016 Cincinnati international turner syndrome meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J 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