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Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome
Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5-10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11.
abnormalities, patients, growth, uniparental disomy, methylation, syndrome, mutation, report
0022-2593
396-399
Bullman, H.
75ccf2b2-5a55-4b89-be72-19b43683aaf8
Lever, M.
4e322ec3-7007-4b49-9ba1-6006e4167146
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Holder, S.E.
b36201a7-889d-4a5e-893d-8d16589de499
Wakeling, E.L.
952707d0-4f1f-4240-a5bf-be957d9a28d5
Bullman, H.
75ccf2b2-5a55-4b89-be72-19b43683aaf8
Lever, M.
4e322ec3-7007-4b49-9ba1-6006e4167146
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Holder, S.E.
b36201a7-889d-4a5e-893d-8d16589de499
Wakeling, E.L.
952707d0-4f1f-4240-a5bf-be957d9a28d5

Bullman, H., Lever, M., Robinson, D.O., Mackay, D.J., Holder, S.E. and Wakeling, E.L. (2008) Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. Journal of Medical Genetics, 45 (6), 396-399. (doi:10.1136/jmg.2007.057059).

Record type: Article

Abstract

Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5-10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11.

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More information

Published date: 2008
Keywords: abnormalities, patients, growth, uniparental disomy, methylation, syndrome, mutation, report

Identifiers

Local EPrints ID: 59533
URI: https://eprints.soton.ac.uk/id/eprint/59533
ISSN: 0022-2593
PURE UUID: eeb521ac-7e13-416b-bb78-76f954dc7c99
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 29 Aug 2019 00:48

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