A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype
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).
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
e84
Maggouta, F.
df66365c-955e-4bb3-8218-9fb31fd8dc02
Roberts, S.E.
1ba6b93b-6904-4bf4-b83d-600372bf6c60
Dennis, N.R.
154aa617-52e2-4711-98ef-89fef8610de7
Veltman, M.W.
d3428dfc-a848-4fc1-849f-e9466353b73d
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
2003
Maggouta, F.
df66365c-955e-4bb3-8218-9fb31fd8dc02
Roberts, S.E.
1ba6b93b-6904-4bf4-b83d-600372bf6c60
Dennis, N.R.
154aa617-52e2-4711-98ef-89fef8610de7
Veltman, M.W.
d3428dfc-a848-4fc1-849f-e9466353b73d
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
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), .
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).
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Published date: 2003
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
Identifiers
Local EPrints ID: 60012
URI: http://eprints.soton.ac.uk/id/eprint/60012
ISSN: 0022-2593
PURE UUID: d62c2a78-6f40-49b1-bac6-ab90b248b703
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Date deposited: 04 Sep 2008
Last modified: 22 Jul 2022 21:12
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Contributors
Author:
F. Maggouta
Author:
S.E. Roberts
Author:
N.R. Dennis
Author:
M.W. Veltman
Author:
J.A. Crolla
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