caa a22 4500 469062622 CHVBK 20180323132902.0 cr unu---uuuuu 170328e19920201xx s 000 0 eng 10.1007/BF00431253 doi (NATIONALLICENCE)springer-10.1007/BF00431253 Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 [Elektronische Daten] [Alisoun Carey, Uwe Claussen, Hermann-Josef Lüdecke, Bernhard Horsthemke, David Ellis, Helena Oakey, David Wilson, John Burn, Robert Williamson, Peter Scambler] DiGeorge syndrome in humans is charaterized 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. Springer-Verlag New York Inc, 1992 Carey Alisoun Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut Claussen Uwe Institut für Humangenetik der Universitat, Schwabachanlage 10, D-8520, Erlangen, FRG aut Lüdecke Hermann-Josef Institüt fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D-4300, Essen 1, FRG aut Horsthemke Bernhard Institüt fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D-4300, Essen 1, FRG aut Ellis David Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut Oakey Helena Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut Wilson David Division of Human Genetics, University of Newcastle upon Tyne, NE2 4AA, Newcastle, UK aut Burn John Division of Human Genetics, University of Newcastle upon Tyne, NE2 4AA, Newcastle, UK aut Williamson Robert Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut Scambler Peter Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut Mammalian Genome Springer-Verlag 3/2(1992-02-01), 101-105 0938-8990 3:2<101 1992 3 335 https://doi.org/10.1007/BF00431253 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00431253 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Carey Alisoun Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut NATIONALLICENCE 700 1- Claussen Uwe Institut für Humangenetik der Universitat, Schwabachanlage 10, D-8520, Erlangen, FRG aut NATIONALLICENCE 700 1- Lüdecke Hermann-Josef Institüt fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D-4300, Essen 1, FRG aut NATIONALLICENCE 700 1- Horsthemke Bernhard Institüt fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D-4300, Essen 1, FRG aut NATIONALLICENCE 700 1- Ellis David Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut NATIONALLICENCE 700 1- Oakey Helena Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut NATIONALLICENCE 700 1- Wilson David Division of Human Genetics, University of Newcastle upon Tyne, NE2 4AA, Newcastle, UK aut NATIONALLICENCE 700 1- Burn John Division of Human Genetics, University of Newcastle upon Tyne, NE2 4AA, Newcastle, UK aut NATIONALLICENCE 700 1- Williamson Robert Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut NATIONALLICENCE 700 1- Scambler Peter Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, W2 1PG, Paddington, UK aut NATIONALLICENCE 773 0- Mammalian Genome Springer-Verlag 3/2(1992-02-01), 101-105 0938-8990 3:2<101 1992 3 335 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer