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Article

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Genes - 27 Nov 2021

Tabolacci Elisabetta, Pomponi Maria Grazia, Remondini Laura, Pietrobono Roberta, Orteschi Daniela, Nobile Veronica, Pucci Cecilia, Musto Elisa, Pane Marika, Mercuri Eugenio M, Neri Giovanni, Genuardi Maurizio, Chiurazzi Pietro, Zollino Marcella

Abstract excerpt

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three independent cases of FXS co-segregation with three different genetic conditions, consisting of Duchenne muscular...

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Identifiers

PMID: 34946857
DOI: 10.3390/genes12121909
PMCID: PMC8701878

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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