ArticleMolecular genetics & genomic medicine2026
Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.
Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.Molecular genetics & genomic medicine · 2026Article
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4 authors.
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Abstract
backgroundKlinefelter Syndrome (KS) and Turner Syndrome (TS) are the two most common sex chromosome aneuploidies (SCAs). This study aims to investigate genotype-phenotype correlations of SCAs including classic, rare variants, and mosaic cases of KS and TS.
methodsTo understand the relationship between genotype and phenotype (i.e., clinical findings) in SCAs, retrospective cytogenetic and clinical data was collected for KS (n = 57) and TS (n = 92) cases from 2013 to 2022. The cohorts of KS and TS were divided into three subcategories (classic, mosaic, variant/other) based on the genotype.
resultsThe other supernumerary SCA (sSCA) group within the KS cohort had a significantly higher rate of developmental delay when compared to other KS groups. Although tall stature, pubertal delay, and congenital heart defects were described in the KS classic and other sSCA cohorts, these phenotypes were not seen in KS mosaics. Within the TS variant cohort, phenotype severity (i.e., number of accumulated pathologic clinical findings) was related to the complexity of the structural abnormality of X chromosomes.
conclusionOur study highlights that the SCA genotype (classic, mosaic, variant/other) modulates expression of the phenotype. Analysis of larger datasets may provide a deeper understanding leading to enhanced care management and improved patient outcomes.
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