title: Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
abstract: Partial 1q trisomy syndrome is a rare disorder. Because unbalanced chromosomal translocations often occur with 1q trisomy, it is difficult to determine whether patient symptoms are related to 1q trisomy or other chromosomal abnormalities. The present study evaluated genotype-phenotype correlations of 26 cases diagnosed with 1q partial trisomy syndrome. DNA microarray was used to investigate the duplication/triplication region of 16 cases. Although there was no overlapping region common to all 26 cases, the 1q41-qter region was frequently involved. One case diagnosed as a pure interstitial trisomy of chromosome 1q by G-banded karyotype analysis was instead found to be a pure partial tetrasomy by CytoScan HD Array. In four 1q trisomy syndrome cases involving translocation, the translocated partner chromosome could not be detected by DNA microarray analyzes despite G-banded karyotype analysis, because there were a limited number of probes available for the partner region. DNA microarray and G-banded karyotyping techniques were therefore shown to be compensatory diagnostic tools that should be used by clinicians who suspect chromosomal abnormalities. It is important to continue recruiting affected patients and observe and monitor their symptoms to reveal genotype-phenotype correlations and to fully understand their prognosis and identify causal regions of symptoms.
authors.affiliation: Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Watanabe
authors.affiliation: Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Shimizu
authors.affiliation: Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.affiliation: Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.affiliation: Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Mizuno
authors.affiliation: Department of Pediatrics, Hyogo Prefectural Tsukaguchi Hospital, Hyogo, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Dowa
authors.affiliation: Department of Pediatrics, Yodogawa Christian Hospital, Osaka, Japan.
authors.forename: Natsuko
authors.initials: N
authors.lastname: Shiomi
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Tokushima University, Tokushima, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Toda
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Tashiro
authors.affiliation: Department of Pediatrics, Tokushima Red Cross Hospital, Tokushima, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Shichijo
authors.affiliation: Department of Pediatrics, Hiroshima-nishi Medical Center, Hiroshima, Japan.
authors.forename: Kazunori
authors.initials: K
authors.lastname: Minatozaki
authors.affiliation: Department of Pediatrics, Japanese Red Cross Medical Center, Tokyo, Japan.
authors.forename: Seijiro
authors.initials: S
authors.lastname: Aso
authors.affiliation: Department of Pediatrics, Hyogo College of Medicine, Hyogo, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Minagawa
authors.affiliation: Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.affiliation: Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Nagasaki, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
authors.affiliation: Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Nagasaki, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Fukuda
authors.affiliation: Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Moriuchi
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.affiliation: Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Nagasaki, Japan.
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D019066:Facies; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult
keywords: genotype-phenotype correlation; microarray; tetrasomy 1q; trisomy 1q