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Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Martinez-Falero, Beatriz Suarez; Koutalopoulou, Anastasia; Douglas, Andrew G L; Kharbanda, Mira; Collinson, Morag N; Lotery, Andrew; Lotery, Helen.
Affiliation
  • Martinez-Falero BS; Department of Dermatology, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK.
  • Koutalopoulou A; Department of Dermatology, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK.
  • Douglas AGL; Wessex Clinical Genetics Service, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK.
  • Kharbanda M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.
  • Collinson MN; Wessex Clinical Genetics Service, Southampton University Hospital NHS Foundation Trust, Southampton, Hampshire, UK.
  • Lotery A; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Hampshire, UK.
  • Lotery H; Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.
Clin Exp Dermatol ; 47(12): 2342-2345, 2022 Dec.
Article in En | MEDLINE | ID: mdl-36178237
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. Click here for the corresponding questions to this CME article.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Incontinentia Pigmenti / Hyperpigmentation Limits: Adult / Female / Humans Language: En Journal: Clin Exp Dermatol Year: 2022 Document type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Incontinentia Pigmenti / Hyperpigmentation Limits: Adult / Female / Humans Language: En Journal: Clin Exp Dermatol Year: 2022 Document type: Article Affiliation country: United kingdom