Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 14, Maternal

IVD Test Reagent/Kits, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 14, Maternal

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 mother (i.e., uniparental disomy [UPD]) and the father's chromosome for that pair is missing. Maternally inherited disomy 14 is associated with short stature, hypotonia, hyperextensible joints, scoliosis, minor facial dysmorphic features, mild developmental delay, and precocious puberty.

Entry Terms : "Maternal Disomy Detection Reagents" , "Disomy 14 Detection Reagents" , "Chromosome Anomaly Detection Reagents, Maternal Disomy" , "Reagents, Molecular Assay, Chromosome Anomaly, Uniparental Disomy 14, Maternal"

UMDC code : 24032

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