A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12.3 to 2q13, with inversion of the central segment, which arose de novo from a paternal interchomosomal event. The triplication contains 68 known genes within the 7.28 Mb of DNA between base pairs 107,140,721 and 114,416,131. All intrachromosomal triplications are rare and, while partial duplications of 2q have been previously described, this patient is a unique surviving case of a triplication of proximal 2q
179-186
Mercer, C.L.
1368ac79-188a-4b3a-9a9b-356ef3b30983
Browne, C.E.
3ba0ce5a-74c7-4564-a274-334c7a39c221
Barber, J.C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Huang, S.
a8beb2a3-8e04-4d81-b6b8-453af8791721
Thomas, N.S.
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Foulds, N.
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May 2009
Mercer, C.L.
1368ac79-188a-4b3a-9a9b-356ef3b30983
Browne, C.E.
3ba0ce5a-74c7-4564-a274-334c7a39c221
Barber, J.C.K.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Maloney, V.K.
02588a50-e8b2-486b-8d54-53cb32a0a035
Huang, S.
a8beb2a3-8e04-4d81-b6b8-453af8791721
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Foulds, N.
5e153e9f-caae-45f5-b6f0-943bd567558e
Mercer, C.L., Browne, C.E., Barber, J.C.K., Maloney, V.K., Huang, S., Thomas, N.S. and Foulds, N.
(2009)
A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.
Cytogenetic and Genome Research, 124 (2), .
(doi:10.1159/000207526).
Abstract
We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal triplication of bands 2q12.3 to 2q13, with inversion of the central segment, which arose de novo from a paternal interchomosomal event. The triplication contains 68 known genes within the 7.28 Mb of DNA between base pairs 107,140,721 and 114,416,131. All intrachromosomal triplications are rare and, while partial duplications of 2q have been previously described, this patient is a unique surviving case of a triplication of proximal 2q
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Published date: May 2009
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Local EPrints ID: 69682
URI: http://eprints.soton.ac.uk/id/eprint/69682
ISSN: 1424-8581
PURE UUID: c3eeae80-4972-447b-a08c-8bd2a79221b6
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Date deposited: 26 Nov 2009
Last modified: 13 Mar 2024 19:41
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Author:
C.L. Mercer
Author:
C.E. Browne
Author:
J.C.K. Barber
Author:
V.K. Maloney
Author:
S. Huang
Author:
N.S. Thomas
Author:
N. Foulds
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