Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all
stages of life, necessitating multidisciplinary care. This guideline extends previous ones and …

Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and
diagnoses in the neonatal period are increasing with advancements in prenatal and early …

Objective: To examine the early cognitive, temperament, and adaptive functioning of infants
and toddlers with Turner syndrome (TS). Methods: Cognitive abilities were measured using …

As a prenatal screening test, cell-free DNA-based prenatal testing (cfDNA testing) may lead
to widening the scope of prenatal screening beyond common autosomal trisomies. Sex …

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means
of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated …

Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X
chromosome in males. Postnatal population-based KS screening will enable timely …

Las aneuploidías de cromosomas sexuales son las aberraciones cromosómicas más
comunes en los humanos, dentro de este grupo se encuentra el Síndrome de Turner, la …

Turner syndrome (TS), is the most common chromosomal abnormality in females. TS is
caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed …