ArticleEuropean journal of medical genetics2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Article in European journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 54 citations in OpenAlex.
- Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.NPJ genomic medicine · 2025Article
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.Genes · 2022Review
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Review
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- 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
- Article
- 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 presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Molecular cytogenetics · 2016Article
- Infectious and immunologic phenotype of MECP2 duplication syndrome.Journal of clinical immunology · 2015Article
- De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.Human genetics · 2014Article
- MECP2 duplication phenotype in symptomatic females: report of three further cases.Molecular cytogenetics · 2014Article
- Brief report: regression timing and associated features in MECP2 duplication syndrome.Journal of autism and developmental disorders · 2013Article
- X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.Orphanet journal of rare diseases · 2013Article
- CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.BMC medical genetics · 2012Article
- Article
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Authors and funding
30 authors at 11 institutions in 5 countries.
Funding
Abstract
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males.
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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.