ArticleThe Indian journal of medical research2026
A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome.
Article in The Indian journal of medical research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background and objectives Turner syndrome is an X-chromosome aneuploidy which include classic monosomy-X and variants like mosaicism, isochromosome-Xq, etc. 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. Methods 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 (SHOX, ARSE) and Xq-genes (VAMP7, XIST). The ΔΔCT method calculated gene dose relative to 46,XX females, with HBB being the housekeeping gene. Gene cut-offs were ascertained by receiver -operator-curve (ROC) analysis. This was followed by developing an algorithm for detecting classical and non-classical Turner syndrome. Results Using the criteria SHOX <0.752 "OR" ARSE <0.885, all the cases of Turner syndrome were detected with 100% sensitivity and 93.3% specificity. VAMP7 >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's k=0.81) with 100-cell karyotyping, identifying 14 of 15 Turner syndrome cases with low-level mosaicism missed by 30-cell-karyotyping. Interpretation and conclusions 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.
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