• Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q
• Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the 'trisomy 1q42-->qter syndrome'
• Duplication of the distal part of the long arm of chromosome 1
• Genetic risk of families with t(1;2)(q42;q33) GTG, RHG, QFQ, FISH
• Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter
• Monosomy 3pter-p25.3 and trisomy 1q42.13-qter in a boy with profound growth and developmental restriction, multiple congenital anomalies, and early death
• Partial trisomy 1(q42-->qter): a new case with a mild phenotype
• Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay
• Pure segmental trisomy 1q42-qter in a boy with a severe phenotype
• The distal partial trisomy 1q syndrome and dystonic tremor
• Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report
• Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome