Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

In the last decade, growing attention has been placed on joint hypermobility and related
disorders. The new nosology for Ehlers–Danlos syndrome (EDS), the best‐known and …

Aneuploidy, or imbalanced chromosome number, has profound effects on eukaryotic cells.
In humans, aneuploidy is associated with various pathologies, including cancer, which …

Aneuploidy, chromosome stoichiometry that deviates from exact multiples of the haploid
compliment of an organism, exists in eukaryotic microbes, several normal human tissues …

To achieve a balanced gene expression dosage between males (XY) and females (XX),
mammals have evolved a compensatory mechanism to randomly inactivate one of the …

The study of sexual dimorphism in psychiatric and neurodevelopmental disorders is
challenging due to the complex interplay of diverse biological, psychological, and social …

Background Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is
limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We …

Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected
individuals, a disease characteristic termed variable expressivity. Recently, the aggregate …

Infertility is a relatively common health condition, affecting nearly 7% of all couples.
Clinically, it is a highly heterogeneous pathology with a complex etiology that includes …