Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.

American journal of medical genetics - 1 Sept 1990

Anvret M, Wahlström J, Skogsberg P, Hagberg B

Abstract excerpt

We report on the first family in which Rett syndrome (RTS) appeared in two consecutive generations. The index case is a 12-year-old girl (classical RTS); her maternal aunt, age 44 years, has mild RTS. Clinically, the family illustrates the wide phenotypic variability between cases, particularly in severity of neurological manifestations. We have analyzed the short arm of the X-chromosome of the family with gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Haplotypes
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Pedigree

Share to X Chromosome

Source

Identifiers

PMID: 2240040
DOI: 10.1002/ajmg.1320370109

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

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.PMID 2240040Read ↗

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.Semantic proximity Read ↗

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.Semantic proximity Read ↗

Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.Semantic proximity Read ↗

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.Semantic proximity Read ↗

Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.Semantic proximity Read ↗

Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome.Semantic proximity Read ↗

Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).Semantic proximity Read ↗

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.Semantic proximity Read ↗

Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.Semantic proximity Read ↗

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.Semantic proximity Read ↗

Multiple sclerosis susceptibility and the X chromosome.Semantic proximity Read ↗

DNA analysis and recombination in X-linked retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.