Reagents, Molecular Assay, Chromosome Anomaly, Sexual, Turner
Definition : Molecular assay reagents intended for use in identifying the absence of the second sexual chromosome in a female patient sample (i.e., XO rather than the normal XX). Variants may include mosaic combinations such as XO/XX and XO/XXX. These chromosome aberrations cause Turner syndrome, in which phenotype women are usually sterile with short stature, sparse pubic hair, webbing of the neck, and sexual infantilism.
Entry Terms : "Reagents, Molecular Assay, Inborn Disorder, Chromosomal, Sexual, Turner" , "Turner Syndrome Diagnostic Reagents" , "Turner Sexual Disorder Determination Reagents"
UMDC code : 19616