Paternal uniparental disomy syndrome

Paternal uniparental disomy (UPD) syndrome (Orphanet code 98154) is not a single disease entity but rather a grouping category encompassing several distinct genetic conditions that arise when a child inherits both copies of a particular chromosome (or chromosomal region) from the father, with no corresponding copy from the mother. This results in an abnormal pattern of genomic imprinting, where genes that are normally expressed only from the maternal copy are silenced, and genes expressed only from the paternal copy are present in double dose. The clinical consequences depend entirely on which chromosome is involved. Several well-characterized syndromes fall under this umbrella. For example, paternal uniparental disomy of chromosome 15 causes Angelman syndrome (due to loss of maternally expressed UBE3A), paternal UPD of chromosome 11p15 causes Beckwith-Wiedemann syndrome (with overgrowth, macroglossia, organomegaly, and increased tumor risk), and paternal UPD of chromosome 14 causes Kagami-Ogata syndrome (Temple syndrome being the maternal counterpart). Paternal UPD of chromosome 6 has been associated with transient neonatal diabetes mellitus. Each of these conditions has distinct clinical features, affected body systems, and management strategies. Because this Orphanet entry represents a broad classification rather than a single disease, the symptoms, age of onset, and treatment approaches vary widely depending on the specific chromosome involved. Management is generally supportive and tailored to the individual condition. Genetic counseling is recommended for affected families, and diagnosis typically involves molecular genetic testing including methylation analysis and microsatellite marker studies to confirm the uniparental origin of the chromosomal material.

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