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Complex 4q35 and 10q26 Rearrangements

16 May 2023

Abstract excerpt

Background and Objectives After clinical evaluation, the molecular diagnosis of type 1 facioscapulohumeral dystrophy (FSHD1) relies in most laboratories on the detection of a shortened D4Z4 array at the 4q35 locus by Southern blotting. In many instances, this molecular diagnosis remains inconclusive and requires additional experiments to determine the number of D4Z4 units or identify somatic mosaicism, 4q-10q...

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PMID: 37200893
DOI: 10.1212/nxg.0000000000200076

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