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

Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2006

Le Bris M J, Le Guern H, Plouhinec C, Audrezet M P, Parent P, Chabaud J J, Morel F, De Braekeleer M, Douet-Guilbert N

Abstract excerpt

We report the prenatal diagnosis of a mosaic 45,X/46,X,r(X)/46,XX foetus after amniocentesis for maternal second-trimester serum screening. Biparental contribution for the X chromosomes suggest the postzygotic formation of the X ring. The ring is tiny but contains the X-inactive-specific transcript gene (XIST). However, we could not determine whether XIST was correctly expressed or not. The foetal ultrasound...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Fetal Diseases

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

Share to Mosaicism

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Ring Chromosomes

Share to Ultrasonography

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 17375529

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

Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.PMID 17375529Read ↗

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a fetus with a favorable fetal outcome and the karyotype of 46,XX in the neonatal peripheral blood at age 4½ monthsSemantic 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 ↗

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.Semantic proximity Read ↗

Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birthSemantic proximity Read ↗

Prenatal diagnosis of a rare case report of 45,X/46,X,dic(X) and literature reviewSemantic proximity Read ↗

Three patients with ring (X) chromosomes and a severe phenotype.Semantic proximity Read ↗

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.Semantic proximity Read ↗

45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.Semantic proximity Read ↗

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

Low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell lineSemantic proximity Read ↗

Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report.Semantic proximity Read ↗

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

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