OBSOLETE: Uniparental disomy of chromosome 7

Uniparental disomy of chromosome 7 (UPD7) refers to a condition in which an individual inherits both copies of chromosome 7 from a single parent rather than one copy from each parent. This entry in Orphanet (code 263029) is marked as OBSOLETE, meaning it has been retired as a standalone classification and is now typically subsumed under more specific diagnostic entities. The most clinically significant form is maternal uniparental disomy of chromosome 7 (matUPD7), which is recognized as one of the molecular causes of Silver-Russell syndrome (SRS), a condition characterized by intrauterine and postnatal growth restriction, relative macrocephaly, a triangular facial appearance, body asymmetry, and feeding difficulties. MatUPD7 accounts for approximately 5-10% of Silver-Russell syndrome cases. The growth restriction and other features are thought to result from altered expression of imprinted genes on chromosome 7. Paternal UPD7 is much rarer and has not been consistently associated with a well-defined clinical phenotype. Because this entry is obsolete, patients and clinicians are directed to the specific associated conditions, particularly Silver-Russell syndrome (Orphanet code 813), for current clinical guidance. Management of SRS associated with matUPD7 may include growth hormone therapy, nutritional support, and monitoring for developmental and metabolic complications. There is no cure, and treatment is symptomatic and supportive.

Common questions about OBSOLETE: Uniparental disomy of chromosome 7