Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

ABSTRACT:

Background

Klinefelter 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.

Methods

To 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.

Results

The 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,

SUBMITTER: Hart SA 

PROVIDER: S-EPMC12745169 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature