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Article

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.

Clinical genetics - 1 Feb 2023

Pini Sara, Napoli Floriana Maria, Tagliafico Enrico, La Marca Antonio, Bertucci Emma, Salsi Valentina, Tupler Rossella

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic testing for monogenic disorders (PGT-M) requires molecular markers linked to the D4Z4 allele of reduced size. In this...

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Identifiers

PMID: 36250762
DOI: 10.1111/cge.14250
PMCID: PMC10092082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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