Reagents, Molecular Assay, Chromosome Anomaly, Sexual, Klinefelter
Definition : Molecular assay reagents intended for use in identifying the presence of two or more X chromosomes in combination with one Y chromosome in a male patient sample, rather than the normal XY combination. Variants include combinations such as XXXY, XXXXY, and mosaic patterns. These chromosomal aberrations cause Klinefelter syndrome, in which sterile phenotype males have small testes, may be developmentally disabled, and tend to be tall with long legs.
Entry Terms : "Reagents, Molecular Assay, Inborn Disorder, Chromosomal, Sexual, Klinefelter" , "Klinefelter Syndrome Diagnostic Reagents" , "Klinefelter Sexual Disorder Determination Reagents"
UMDC code : 19615