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Article

Fragile X mutation and FG syndrome-like phenotype.

American journal of medical genetics - 9 Aug 1996

Piussan C, Mathieu M, Berquin P, Fryns J P

Abstract excerpt

We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins with congenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with similar minor anomalies and an older half-brother with the Martin-Bell syndrome. The mother is mentally retarded; 4...

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Source

Identifiers

PMID: 8844090
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.0.CO;2-8

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Fragile X mutation and FG syndrome-like phenotype.PMID 8844090Read ↗

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The FG syndrome: report of a large Italian series.Semantic proximity Read ↗

FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.Semantic proximity Read ↗

MCA/MR syndrome in two female siblings: new entity or variant examples of Coffin-Lowry versus Atkin-Flaitz syndromes?Semantic proximity Read ↗

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.Semantic proximity Read ↗

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.Semantic proximity Read ↗

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.Semantic proximity Read ↗

Are some multiple congenital anomalies with mental retardation (MCA/MR) the clinical expression of rare autosomal fragile sites?Semantic proximity Read ↗

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