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

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.

American journal of medical genetics. Part A - 1 Oct 2014

Yeung K S, Chee Y Y, Luk H M, Kan Anita S Y, Tang Mary H Y, Lau Elizabeth T, Shuen Andrew Y, Lo Ivan F M, Chan Kelvin Y K, Chung Brian H Y

Abstract excerpt

We report on a baby girl with multiple congenital abnormalities, including cleft palate, intrauterine growth restriction, and double outlet right ventricle (DORV) with ventricular septal defect. She had an unbalanced chromosome translocation t (X;15) resulting in monosomy 15pter → p10 and trisomy Xq13.1 → q28. All three copies of Xq encompass the XIST gene. It is known that X chromosome inactivation could spread...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 15
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CpG Islands

Share to DNA Methylation

Share to Infant

Share to Phenotype

Share to Translocation, Genetic

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 25044945
DOI: 10.1002/ajmg.a.36670

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.PMID 25044945Read ↗

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.Semantic proximity Read ↗

Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.Semantic proximity Read ↗

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).Semantic proximity Read ↗

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.Semantic proximity Read ↗

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).Semantic proximity Read ↗

Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.Semantic proximity Read ↗

An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.Semantic proximity Read ↗

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.Semantic proximity Read ↗

Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.Semantic proximity Read ↗

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.Semantic proximity Read ↗

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.Semantic proximity Read ↗

A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.Semantic proximity Read ↗

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