Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb |
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| Authors: | Buxton, Jessica L. Chan, Chi-tsung J. Gilbert, Helen Clayton-Smith, Jill Burn, John Pembrey, Marcus Malcolm, Susan |
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| Affiliation: | Unit erf Molecular Genetics, Division of Biochemistry and Genetics, Institute of Child Health Guifford Street, London WC1N 1EH 1Department of Medical Genetics. St. Mary's Hospital Hathersage Road, Whrtfteld Park, Manchester M13 0J8 2Northern Region Genetics Service, Unrversrty of Newcastle upon Tyne Newcastle upon Tyne NE2 4AA, UK |
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| Abstract: | Angelman syndrome (AS) is a neurogenetic disorder arising froma lack of genetic contribution from the maternal chromosome15q1113. To date, the AS critical region has been definedby an inherited deletion of approximately 1.5Mb, spanning the321 (D15S10), LS61 (D15S113) and GABRB3 loci.We have Identified an individual with the typical features ofAS who has a deletion of the maternal chromosome which encompassesLS61, but does not extend to either flanking marker.This deletion, initially detected by (CA)n repeat analysis,was further characterised by fluorescence In situ hybridisation(FISH) using cosmids derived from a 260 kb LS61 yeastartificial chromosome (YAC). Neither end cosmid from this YACclone falls within the deletion, suggesting that the minimalAS region Is less than 200 kb. We also studied three loci within15q1113 which detect parent-of-origin specific DNA methylationimprints, and found that both normal maternal and paternal patternswere present in this patient. |
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