title: Non C-banding variants in some normal families might be homogeneously staining regions.
abstract: Three families are reported showing transmission of a previously described variant, which is not associated with any clinical abnormality. The variant involves additional material at the band 9p12, which shows homogeneous staining of intermediate density with GTL- and RBG-banding, and negative staining with CBG-banding. The region stains positively with Feulgen stain. In situ hybridization with total genomic human DNA, cloned alpha satellite, satellite III, and ribosomal DNA all show no hybridization to the 9p12 variant. Two members of one of the families show the largest 9p12 variant yet reported; two other carriers in this family have inherited a variant of decreased size. It is suggested that the 9p12 variants are homogeneously staining regions. Using the ISCN three-letter convention, this variant could be described as hsr(9)(p12).
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: G C
authors.initials: GC
authors.lastname: Webb
authors.forename: E J
authors.initials: EJ
authors.lastname: Krumins
authors.forename: S Z
authors.initials: SZ
authors.lastname: Eichenbaum
authors.forename: L E
authors.initials: LE
authors.lastname: Voullaire
authors.forename: E
authors.initials: E
authors.lastname: Earle
authors.forename: K H
authors.initials: KH
authors.lastname: Choó
mesh_terms: D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D005784:Gene Amplification; D006801:Humans; D009693:Nucleic Acid Hybridization; D010375:Pedigree