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

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a 45,X karyotype

29 May 2002

Abstract excerpt

The parental origin of the X chromosome of 45,X females has been the subject of many studies, and most of them have shown that the majority (60-80%) of the X chromosomes are maternal in origin. However, studies on the parental origin of normal X chromosomes are relatively limited for Turner syndrome (TS) females with sex chromosome aberrations. In this study, we used PCR-based typing of highly polymorphic markers...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal and Genetic Variations
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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

Share to Prenatal Screening and Diagnostics

Source

Identifiers

PMID: 12210339
DOI: 10.1002/ajmg.10506

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

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a 45,X karyotypePMID 12210339Read ↗

49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes.Semantic proximity Read ↗

Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.Semantic proximity Read ↗

Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.Semantic proximity Read ↗

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature reviewSemantic proximity Read ↗

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.Semantic proximity Read ↗

Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male.Semantic proximity Read ↗

Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluationsSemantic proximity Read ↗

Genetic characterization of two 46,XX males without gonadal ambiguities.Semantic proximity Read ↗

Phenotype and X inactivation in 45,X/46,X,r(X) cases.Semantic proximity Read ↗

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.Semantic proximity Read ↗

An association between sex chromosomal aneuploidy in sperm and an abortus with 45,X of paternal origin: possible transmission of chromosomal abnormalities through ICSISemantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissuesSemantic proximity Read ↗

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