title: Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.
abstract: DiGeorge syndrome in humans is characterized by immunodeficiency, heart defects, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases. To generate DNA markers from this region, we have microdissected and microcloned band q11 of human Chromosome (Chr) 22. Nineteen thousand clones were obtained from material dissected from 20 chromosome fragments. Seventeen of 61 clones analyzed (28%) were repetitive, 27 (44%) gave no signal, and 17 (28%) detected single copy sequences of which ten mapped to Chr 22. Two of these were found to be deleted in patients with DiGeorge syndrome and either monosomy for 22q11-pter or visible interstitial deletions of 22q11. These two markers are also hemizygous in patients with no visible chromosomal abnormality, demonstrating that submicroscopic deletions are common in DiGeorge syndrome patients.
authors.affiliation: Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, UK.
authors.forename: A H
authors.initials: AH
authors.lastname: Carey
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: H J
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: D
authors.initials: D
authors.lastname: Ellis
authors.forename: H
authors.initials: H
authors.lastname: Oakey
authors.forename: D
authors.initials: D
authors.lastname: Wilson
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D015139:Blotting, Southern; D002460:Cell Line; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D004062:DiGeorge Syndrome / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans
chemical_list: D005819:Genetic Markers