title: Chromosome 1q terminal deletion resulting from de novo translocation with an acrocentric chromosome.
abstract: Distal deletion of chromosome 1q has been reported in nearly 30 patients, all being associated with a deletion ranging from the 1q42 or q43 band to 1qter region. Here, we describe a girl with 1q terminal deletion resulting from an unbalanced de novo translocation t(1;D or G)(q44;p11), as revealed by the presence of a satellited feature and an NOR-stained region at the tip of 1q. We suggest that most of the phenotypic abnormalities seen in patients with 1q distal deletion are attributable to the monosomy for band 1q44.
authors.affiliation: Department of Cytogenetics, Tokyo Medical and Dental University, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Arai
authors.forename: S
authors.initials: S
authors.lastname: Nishimura
authors.forename: K
authors.initials: K
authors.lastname: Tamura
authors.forename: M
authors.initials: M
authors.lastname: Kida
authors.forename: T
authors.initials: T
authors.lastname: Ikeuchi
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D014178:Translocation, Genetic / Q000235:genetics*