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Article

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

Clinical genetics - 1 Jun 2012

Carvalho C M B, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski J R

Abstract excerpt

The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-resolution oligonucleotide array comparative genomic hybridization (aCGH) and breakpoint junction sequencing were...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21623770
DOI: 10.1111/j.1399-0004.2011.01716.x
PMCID: PMC3470482

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.PMID 21623770Read ↗

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.Semantic proximity Read ↗

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.Semantic proximity Read ↗

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

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

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

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease as a chromosomal disorder.Semantic proximity Read ↗

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Semantic proximity Read ↗

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?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 ↗

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseaseSemantic proximity Read ↗

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Semantic proximity Read ↗

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