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

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

13 Mar 2015

Abstract excerpt

BACKGROUND: Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting the F8 gene in hemophilia A. This syndrome has recently been described in 9 males with cognitive impairment,...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Hemophilia Treatment and Research
Share to Williams Syndrome Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25927380
DOI: 10.1186/s12881-015-0157-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature reviewPMID 25927380Read ↗

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.Semantic proximity Read ↗

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.Semantic proximity Read ↗

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.Semantic proximity Read ↗

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.Semantic proximity Read ↗

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy.Semantic proximity Read ↗

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.Semantic proximity Read ↗

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.Semantic proximity Read ↗

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.Semantic proximity Read ↗

Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.Semantic proximity Read ↗

22q11.2 duplications: Expanding the clinical presentation.Semantic proximity Read ↗

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Semantic proximity Read ↗

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication SyndromesSemantic proximity Read ↗

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