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Molecular Analysis of an Extra inv dup(15)(q13) Chromosome in Two Patients with Angelman Syndrome

  • T. Buchholz (a1), S. Schuffenhauer (a1), K. Evans (a2), L. Robson (a3), B. Appleton (a4) and A. Smith (a3)...

Extract

Angelman syndrome (AS) is caused by the loss of function of yet unidentified gene(s) which map within 15q 11-13 and show monoallelic expression from the maternal allele. Lack of the maternal allele(s), due to either a deletion on the maternal chromosome 15 (about 70% of AS patients) or a paternal uniparental disomy (UPD)15 (<5%), are the most common molecular defects in AS. Prader-Willi syndrome (PWS) also maps to proximal 15q, but is caused by the loss of function of paternally expressed gen(s) [1]. Here we describe clinical, cytogenetic and molecular data for two non-related patients with AS who carry a nonmosaic extra cromosome inv dup(15).

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Copyright

Corresponding author

RAHC-The Children's Hospital, Pyrmont Bridge Road, Camperdown NSW 2050, Australia

References

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1. Nicholls, RD: Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev 1993; 3: 445456.
2. Leana-Cox, J, Jenkins, L, Palmer, CG, Plattner, R, Sheppard, L, Flejter, WL, Zackowski, J, Tsien, F, Schwartz, S: Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications. Am J Hum Genet 1994; 54: 748756.
3. Cheng, SD, Spinner, NB, Zackai, EH, Knoll, JH: Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 1994; 55: 753759.
4. Robinson, WP, Binkert, F, Gine, R, Vazquez, C, Muller, W, Rosenkranz, W, Schinzel, A: Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet 1993; 1: 3750.

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