IVD Test Reagent/Kits, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 15, Maternal
Definition : Molecular assay reagents intended for use in identifying the abnormal situation in which both members of the chromosome pair 15 are inherited from the mother (i.e., uniparental disomy [UPD]) and the father's chromosome for that pair is missing. Maternally inherited disomy 15 results in Prader-Willi syndrome, which is characterized by neonatal hyponia, poor suck and failure to thrive, developmental delay and/or disability, childhood onset obesity, short stature, hypogonadism, and severe behavior problems. 25% of Prader-Willi syndrome patients have maternal UPD15, and 70% have a partial deletion of 15q.
Entry Terms : "Disomy 15 Detection Reagents" , "Maternal Disomy Detection Reagents" , "Chromosome Anomaly Detection Reagents, Maternal Disomy" , "Reagents, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 15, Maternal"
UMDC code : 24035