• Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter)
• Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
• Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5
• Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter
• Constitutional t(5;7)(q11;p15) rearranged to acquire monosomy 7q and trisomy 1q in a patient with myelodysplastic syndrome transforming to acute myelocytic leukemia
• Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome
• Double trisomy (1q32-->qter and 21pter-->q22) in a newborn female resulting from a maternal t(1;21)(q32;q22)
• Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q
• Duplication of the distal part of the long arm of chromosome 1
• Further clinical delineation in trisomy 1q32 syndrome
• Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements
• Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report
• Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype
• Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement
• The distal partial trisomy 1q syndrome and dystonic tremor