IVD Test Reagent/Kits, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 14, Paternal
Definition : Molecular assay reagents intended for use in identifying the abnormal situation in which both members of the chromosome pair 14 are inherited from the father (i.e., uniparental disomy [UPD]) and the mother's chromosome for that pair is missing. Paternally inherited disomy 14 is characterized by developmental disability, skeletal abnormalities that result in short-limb dwarfism with narrow thorax, decreased survival due to respiratory difficulties, dysmorphic facies, and scoliosis.
Entry Terms : "Disomy 14 Detection Reagents" , "Paternal Disomy Detection Reagents" , "Chromosome Anomaly Detection Reagents, Paternal Disomy" , "Reagents, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 14, Paternal"
UMDC code : 24033