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Article

Paternal transmission of fragile X syndrome.

American journal of medical genetics. Part A - 30 Aug 2004

Zeesman Susan, Zwaigenbaum Lonnie, Whelan Donald T, Hagerman Randi J, Tassone Flora, Taylor Sherryl A M

Abstract excerpt

We present a family in which a fragile X mosaic male, who carries both premutation and full mutation alleles in his peripheral blood leukocytes, has a daughter with both premutation and partially methylated full mutation alleles and a significant developmental disability. To our knowledge, this is the first report of such an occurrence and it challenges current thinking about the expansion and transmission of...

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Source

Identifiers

PMID: 15316964
DOI: 10.1002/ajmg.a.30191

Genes

FMR1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternal transmission of fragile X syndrome.PMID 15316964Read ↗

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.Semantic proximity Read ↗

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.Semantic proximity Read ↗

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.Semantic proximity Read ↗

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.Semantic proximity Read ↗

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.Semantic proximity Read ↗

Segregation of the fragile X mutation from an affected male to his normal daughter.Semantic proximity Read ↗

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.Semantic proximity Read ↗

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.Semantic proximity Read ↗

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