title: Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.
abstract: DiGeorge syndrome is a human developmental field defect with the pathological features of an abnormality of embryogenesis at 4 to 6 weeks of gestation. Cytogenetic analyses of patients have revealed a number of instances of monosomy 22q11-pter in this condition. We have analyzed 52 DNA markers that map to 22q11-pter and have found 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome. The set of clones mapping to the DiGeorge region was further assigned to a proximal or a distal location within the deletion.
authors.affiliation: Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, United Kingdom.
authors.forename: A H
authors.initials: AH
authors.lastname: Carey
authors.forename: S
authors.initials: S
authors.lastname: Roach
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: J P
authors.initials: JP
authors.lastname: Dumanski
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjold
authors.forename: V P
authors.initials: VP
authors.lastname: Collins
authors.forename: G
authors.initials: G
authors.lastname: Rouleau
authors.forename: N
authors.initials: N
authors.lastname: Blin
authors.forename: P
authors.initials: P
authors.lastname: Jalbert
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002460:Cell Line; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D015342:DNA Probes; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008969:Molecular Sequence Data; D013577:Syndrome; D014314:Trisomy
chemical_list: D015342:DNA Probes