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Article

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

American journal of medical genetics. Part A - 1 Mar 2014

Goh Elaine Suk-Ying, Banwell Brenda, Stavropoulos Dimitri James, Shago Mary, Yoon Grace

Abstract excerpt

We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected...

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PMID: 24357149
DOI: 10.1002/ajmg.a.36322

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SMS

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Source receipt: pubmed, retrieved 7 Sept 2026.

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