1. Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
- Author
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Martinez‐Falero, Beatriz Suarez, Koutalopoulou, Anastasia, Douglas, Andrew G. L., Kharbanda, Mira, Collinson, Morag N., Lotery, Andrew, and Lotery, Helen
- Subjects
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X-linked genetic disorders , *INFORMED consent (Medical law) , *NUCLEIC acid hybridization , *HYPERPIGMENTATION , *COMPARATIVE genomic hybridization , *HUMAN abnormalities - Abstract
The region of the duplication contained the I HPS3 i gene, which appears to be the only known gene in this duplication to be involved in the pigmentary pathway.2 In our patient, this mosaic genetic anomaly did not result in any additional developmental abnormalities. As fibroblast culture was not possible from the skin biopsy, it remains unconfirmed whether this extra material is present as an interstitial duplication or as a supernumerary marker chromosome. 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. [Extracted from the article]
- Published
- 2022
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