title: Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis.
abstract: We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for the enzyme beta-glucuronidase and the DNA probes around the cystic fibrosis gene--pJ3.11 and metH. Both the beta-glucuronidase gene and the DNA probes pJ3.11 and metH were found in 2 copies in our patient, indicating that neither locus lies in the deleted segment.
authors.affiliation: Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: B C
authors.initials: BC
authors.lastname: McGillivray
authors.forename: S
authors.initials: S
authors.lastname: Wood
authors.forename: D K
authors.initials: DK
authors.lastname: Kalousek
authors.forename: S
authors.initials: S
authors.lastname: Langlois
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D003550:Cystic Fibrosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005966:Glucuronidase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007621:Karyotyping
chemical_list: D015342:DNA Probes; D005966:Glucuronidase