ArticleMolecular cytogenetics2014
MECP2 duplication phenotype in symptomatic females: report of three further cases.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Functional skills in MECP2 duplication syndrome: developmental dynamics and regression.Orphanet journal of rare diseases · 2026Article
- Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.Journal of clinical medicine · 2024Article
- Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale.Orphanet journal of rare diseases · 2022Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Review
- Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.American journal of medical genetics. Part A · 2018Article
- The Role of MicroRNAs in Cerebellar Development and Autism Spectrum Disorder During Embryogenesis.Molecular neurobiology · 2017Review
- A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.BMC medical genetics · 2017Article
- Epigenetic alterations induced by environmental stress associated with metabolic and neurodevelopmental disorders.Environmental epigenetics · 2016Review
- Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders.International journal of environmental research and public health · 2016Review
- Infectious and immunologic phenotype of MECP2 duplication syndrome.Journal of clinical immunology · 2015Article
- Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.Molecular cytogenetics · 2015Article
- Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundXq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations.
findingsHere we report on the clinical features of three other adolescent to adult female patients with Xq28 interstitial duplications of variable size, all including MECP2 gene.
conclusionsMild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of our patients. Moreover, early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients.
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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.