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.
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Description/Abstract
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).
| Item Type: | Article |
|---|---|
| ISSNs: | 0022-2593 (print) |
| Related URLs: | |
| 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 |
| Subjects: | R Medicine Q Science > QH Natural history > QH426 Genetics |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Human Genetics |
| Item ID: | 60012 |
| 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) |
| Date: | 2003 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/60012 |
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