ArticleHuman genetics2004
Functional disomy resulting from duplications of distal Xq in four unrelated patients.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 43 citations in OpenAlex.
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Escape From X-Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation.Annals of the New York Academy of Sciences · 2026Article
- Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.Nucleic acids research · 2024Article
- Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC medical genomics · 2024Review
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.BMC medical genomics · 2022Article
- A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.International journal of pediatric endocrinology · 2020Article
- MECP2 duplication phenotype in symptomatic females: report of three further cases.Molecular cytogenetics · 2014Article
- MECP2 Duplication Syndrome.Molecular syndromology · 2012Article
- MECP2 duplications in six patients with complex sex chromosome rearrangements.European journal of human genetics : EJHG · 2011Article
- Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.European journal of human genetics : EJHG · 2010Article
- Periventricular heterotopia in common microdeletion syndromes.Molecular syndromology · 2010Article
- Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.European journal of human genetics : EJHG · 2009Article
- Distal Xq duplication and functional Xq disomy.Orphanet journal of rare diseases · 2009Review
- Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.American journal of human genetics · 2005Article
- Article
- Filamin A and Big2: a shared endocytic pathway.BioarchitectureArticle
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duplications involving the X chromosome, in which the duplicated region is not subject to inactivation, are rare. We describe four distal Xq duplications, in three males and one female, in which the duplicated X chromosomal material is active in all cells. The infantile phenotype bears some resemblance to that of the Prader-Willi syndrome, presenting with initial feeding difficulties, hypotonia and, sometimes, with cryptorchidism. However, the severity of the phenotype is not simply related to the size of the duplication and so variations in gene expression, gene disruption or position effects from breakpoints should be considered as explanations. We have compared the clinical, cytogenetic and molecular findings of our patients with those previously reported. This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral periventricular nodular heterotopia/mental retardation syndrome (BPNH/MR). We have also narrowed the putative critical interval for X-linked spina bifida.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.