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Article

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

American journal of medical genetics - 2 Apr 1999

Parvari R, Mumm S, Galil A, Manor E, Bar-David Y, Carmi R

Abstract excerpt

A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS8318 (612-1078L) and DXS7847 (576-291L) (approximately 250 kb...

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Source

Identifiers

PMID: 10208166
DOI: 10.1002/(sici)1096-8628(19990402)83:4<302::aid-ajmg13>3.0.co;2-p

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.PMID 10208166Read ↗

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.Semantic proximity Read ↗

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.Semantic proximity Read ↗

Fragile X syndrome and deletions in FMR1: new case and review of the literature.Semantic proximity Read ↗

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.Semantic proximity Read ↗

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.Semantic proximity Read ↗

Molecular genetic analysis of mentally retarded males with features of the fragile-X syndrome.Semantic proximity Read ↗

Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findingsSemantic proximity Read ↗

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.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 ↗

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Semantic proximity Read ↗

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The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).Semantic proximity Read ↗

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