title: Distribution of the D15Z1 copy number polymorphism.
abstract: Using fluorescent in situ hybridization (FISH) with the probe p15 (D15Z1), we investigated the distribution of the polymorphic 15p signal which has been reported to occur on acrocentric chromosomes in addition to chromosome 15. The short arm of chromosome 15 has a characteristic signal pattern when hybridized with the FISH probe D15Z1. However, the D15Z1 signal can occasionally be seen on the short arm of other acrocentric chromosomes. We studied the distribution of the D15Z1 probe in 1657 patients consisting both of individuals with a normal karyotype and those with a variety of chromosome abnormalities involving the acrocentric chromosomes. Our results show that one in six individuals, regardless of their patient ascertainment category or karyotypic status, had one or more additional D15Z1 signals, and that there were no significant differences in the distribution of extra signals among the patient groups.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK. annette.cockwell@salisbury.nhs.uk
authors.forename: Annette E
authors.initials: AE
authors.lastname: Cockwell
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Jacobs
authors.forename: John A
authors.initials: JA
authors.lastname: Crolla
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure; D003430:Cross-Sectional Studies; D015342:DNA Probes; D018628:Gene Dosage; D005819:Genetic Markers; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D015342:DNA Probes; D005819:Genetic Markers