Pigmentary anomaly caused by mosaic 3q22.2q29 duplication
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication
A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-coloured papules on the left palm. Ophthalmoscopy revealed hypopigmented spots in the macular region of the retina in each eye due to focal areas of depigmentation of the retinal pigment epithelium. An array comparative genomic hybridization on DNA extracted from a skin biopsy revealed a 63.63-Mb duplication, arr[GRCh37] 3q22.2q29(134212001_197837069)x3, on the long arm of chromosome 3. This case is an example of genetic mosaicism resulting from a de novo genetic defect arising at some point in embryonic development.
2342-2345
Martinez-Falero, Beatriz Suarez
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Koutalopoulou, Anastasia
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Douglas, Andrew
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Kharbanda, Mira
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Collinson, M. N.
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Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Lotery, H
88bea6ba-a911-4e30-9c56-606222ad6b34
28 November 2022
Martinez-Falero, Beatriz Suarez
c9b90114-1484-415b-a9e1-99e43bf9f358
Koutalopoulou, Anastasia
f3d3331a-a066-49a2-8fd2-ea8c6fcb9f4d
Douglas, Andrew
2c789ec4-a222-43bc-a040-522ca64fea42
Kharbanda, Mira
0392062f-7cd8-4896-bfd2-f7040d9b5249
Collinson, M. N.
15f0d18c-4131-414e-9cdc-5549a38d7344
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Lotery, H
88bea6ba-a911-4e30-9c56-606222ad6b34
Martinez-Falero, Beatriz Suarez, Koutalopoulou, Anastasia, Douglas, Andrew, Kharbanda, Mira, Collinson, M. N., Lotery, Andrew and Lotery, H
(2022)
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clinical and Experimental Dermatology, 47 (12), .
(doi:10.1111/ced.15355).
Abstract
A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-coloured papules on the left palm. Ophthalmoscopy revealed hypopigmented spots in the macular region of the retina in each eye due to focal areas of depigmentation of the retinal pigment epithelium. An array comparative genomic hybridization on DNA extracted from a skin biopsy revealed a 63.63-Mb duplication, arr[GRCh37] 3q22.2q29(134212001_197837069)x3, on the long arm of chromosome 3. This case is an example of genetic mosaicism resulting from a de novo genetic defect arising at some point in embryonic development.
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Accepted/In Press date: 25 July 2022
e-pub ahead of print date: 30 September 2022
Published date: 28 November 2022
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Local EPrints ID: 468819
URI: http://eprints.soton.ac.uk/id/eprint/468819
ISSN: 0307-6938
PURE UUID: 5691e261-5771-4f3d-b000-fa6edef2c048
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Date deposited: 26 Aug 2022 16:40
Last modified: 17 Mar 2024 07:26
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Contributors
Author:
Beatriz Suarez Martinez-Falero
Author:
Anastasia Koutalopoulou
Author:
Mira Kharbanda
Author:
M. N. Collinson
Author:
H Lotery
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