The University of Southampton
University of Southampton Institutional Repository

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication

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.
0307-6938
2342-2345
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
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), 2342-2345. (doi:10.1111/ced.15355).

Record type: Article

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.

Text
CED final copy before submission - Accepted Manuscript
Download (26kB)
Slideshow
figures for CED final - Accepted Manuscript
Download (11MB)

More information

Accepted/In Press date: 25 July 2022
e-pub ahead of print date: 30 September 2022
Published date: 28 November 2022

Identifiers

Local EPrints ID: 468819
URI: http://eprints.soton.ac.uk/id/eprint/468819
ISSN: 0307-6938
PURE UUID: 5691e261-5771-4f3d-b000-fa6edef2c048
ORCID for Andrew Douglas: ORCID iD orcid.org/0000-0001-5154-6714
ORCID for Andrew Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 26 Aug 2022 16:40
Last modified: 17 Mar 2024 07:26

Export record

Altmetrics

Contributors

Author: Beatriz Suarez Martinez-Falero
Author: Anastasia Koutalopoulou
Author: Andrew Douglas ORCID iD
Author: Mira Kharbanda
Author: M. N. Collinson
Author: Andrew Lotery ORCID iD
Author: H Lotery

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×