DUP(1Q)(Q42-]QTER) SYNDROME - CASE-REPORT AND REVIEW OF LITERATURE

We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with down-turned corners). The diagnosis of Russell-Silver syndrome (RSS) had been considered but was abandoned when cytogenetic evaluation showed a partial trisomy 1q or duplication 1q (46,XY,15,+der(15)t(1;15)(q42; qter). Data from another 5 reports of dup(1)(q42-->qter) do not allow delineation of a typical syndrome. However, individuals with dup(1q), del(15q), and Russell-Silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, renal anomalies). (C) 1993 Wiley-Liss, Inc.