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

The female and the fragile X. A study of 144 obligate female carriers.

American journal of medical genetics - 1 Jan 2000

Fryns J P

Abstract excerpt

In the present report we summarize our data on 144 obligate female carriers. The clinical and cytogenetic data are reviewed and discussed. In more than 30% of heterozygotes mental development is borderline to subnormal, and they may also present psychiatric disturbances of which psychotic behaviour is the most frequent. Partial phenotypic expression is present in 28% of the carriers, and is more frequent in the...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Face
Share to Fertility

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

Share to Fragile X Syndrome

Share to Genetic Carrier Screening

Share to Genetic Counseling

Share to Heterozygote

Share to Phenotype

Source

Identifiers

PMID: 3953644
DOI: 10.1002/ajmg.1320230110

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

The female and the fragile X. A study of 144 obligate female carriers.PMID 3953644Read ↗

A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.Semantic proximity Read ↗

Fragile X syndrome.Semantic proximity Read ↗

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.Semantic proximity Read ↗

[A clinical and molecular genetic analysis of the fragile X syndrome].Semantic proximity Read ↗

[Fragile X syndrome and very early onset schizophrenia: a female case study].Semantic proximity Read ↗

Premature ovarian failure: a phenotypic expression of fragile X premutation.Semantic proximity Read ↗

Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.Semantic proximity Read ↗

Clinical investigation of females with the Martin-Bell syndrome and risk assessment for carrier status.Semantic proximity Read ↗

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.Semantic proximity Read ↗

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?Semantic proximity Read ↗

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).Semantic proximity Read ↗

The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure.Semantic proximity Read ↗

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