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

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.

Clinical genetics - 1 Jun 2023

Leffler Melanie, Christie Louise, Hackett Anna, Bennetts Bruce, Goel Himanshu, Amor David J, Peters Greg B, Field Michael, Dudding-Byth Tracy

Abstract excerpt

The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated Xq28 duplication syndrome). We describe five families, including nine males with K/L mediated Xq28 duplications, some with regions of greater copy number variation (CNV). We summarise findings in 25 affected males reported to date. Within the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Duplication
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Gene Duplication

Share to Intellectual Disability

Share to Penetrance

Share to Phenotype

Source

Identifiers

PMID: 36688272
DOI: 10.1111/cge.14303

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.PMID 36688272Read ↗

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

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.Semantic proximity Read ↗

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Semantic proximity Read ↗

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

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Semantic proximity Read ↗

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.Semantic proximity Read ↗

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.Semantic proximity Read ↗

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

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.Semantic proximity Read ↗

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.Semantic proximity Read ↗

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

De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.Semantic proximity Read ↗

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