A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype
Maggouta, F., Roberts, S.E., Dennis, N.R., Veltman, M.W. and Crolla, J.A. (2003) A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. Journal of Medical Genetics, 40, (7), e84.
Full text not available from this repository.
The proximal region of chromosome 15q is predisposed to a wide range of structural rearrangements. Deletions of this region, spanning approximately 4 Mb, can be paternally or maternally derived and result in Prader-Willi syndrome and Angelman syndrome, respectively.1 Additional copies of the Prader-Willi/Angelman syndrome critical region (PWACR) can occur as interstitial duplications and triplications or as supernumerary marker chromosomes (SMCs).
|Keywords:||fluorescence, prader-willi syndrome, syndrome, letter, report, microsatellite repeats, pair 15, aneuploidy, child, genetics, humans, non-U.S.gov't, inversion, human, angelman syndrome, chromosome, phenotype, male, in situ hybridization, research support, chromosomes|
Q Science > QH Natural history > QH426 Genetics
|Divisions:||University Structure - Pre August 2011 > School of Medicine > Human Genetics
|Date Deposited:||04 Sep 2008|
|Last Modified:||01 Jun 2011 05:05|
|Contributors:||Maggouta, F. (Author)
Roberts, S.E. (Author)
Dennis, N.R. (Author)
Veltman, M.W. (Author)
Crolla, J.A. (Author)
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
Actions (login required)