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Article

Functional disomy resulting from duplications of distal Xq in four unrelated patients

23 Aug 2004

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15338277
DOI: 10.1007/s00439-004-1175-x

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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

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Functional disomy resulting from duplications of distal Xq in four unrelated patientsPMID 15338277Read ↗

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.Semantic proximity Read ↗

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.Semantic proximity Read ↗

An analysis of Xq deletionsSemantic proximity Read ↗

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.Semantic proximity Read ↗

Rieger syndrome and interstitial 4q26 deletion.Semantic proximity Read ↗

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.Semantic proximity Read ↗

Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome PhenotypeSemantic proximity Read ↗

Phenotype in novel Xp duplication.Semantic proximity Read ↗

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.Semantic proximity Read ↗

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failureSemantic proximity Read ↗

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.Semantic proximity Read ↗

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