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Article

A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.

American journal of medical genetics. Part A - 1 Aug 2022

Vincent Krista Marie, Stavropoulos Dimitri J, Beaulieu-Bergeron Melanie, Yang Chen, Jiang Mary, Zuijdwijk Caroline, Dyment David A, Graham Gail E

Abstract excerpt

Maternal uniparental disomy of human chromosome 7 [upd(7)mat] is well-characterized as a cause of the growth disorder Silver-Russell syndrome (SRS). However, the causative gene is not currently known. There is growing evidence that molecular changes at the imprinted MEST region in 7q32.2 are associated with a phenotype evocative of SRS. This report details a patient with a SRS-like phenotype and a paternally...

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PMID: 35593535
DOI: 10.1002/ajmg.a.62782

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