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

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

Pathologie-biologie - 1 Feb 2007

Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E

Abstract excerpt

OBJECTIVE: X inactivation pattern in X chromosome rearrangements usually favor the less unbalanced cells. It is correlated to a normal phenotype, small size or infertility. We studied the correlation between phenotype and X inactivation ratio in patients with X structural anomalies. PATIENTS AND METHODS: During the 1999-2005 period, 12 X chromosome rearrangements, including three prenatal cases, were diagnosed in...

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 Dwarfism
Share to Fragile X Mental Retardation Protein

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

Share to Genes, X-Linked

Share to Genetic Diseases, X-Linked

Share to Turner Syndrome

Share to X Chromosome Inactivation

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 16690229
DOI: 10.1016/j.patbio.2006.04.003

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

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.PMID 16690229Read ↗

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.Semantic proximity Read ↗

Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome.Semantic proximity Read ↗

X chromosome inactivation in clinical practice.Semantic proximity Read ↗

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Semantic proximity Read ↗

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.Semantic proximity Read ↗

Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.Semantic proximity Read ↗

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Semantic proximity Read ↗

Characteristics and clinical evaluation of X chromosome translocationsSemantic proximity Read ↗

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

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

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.Semantic proximity Read ↗

Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.Semantic proximity Read ↗

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