ArticleAmerican journal of human genetics1992
Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.
Article in American journal of human genetics, 1992. 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, 44 citations in OpenAlex.
- Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.Frontiers in genetics · 2023Article
- Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.Molecular cytogenetics · 2022Article
- Article
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies.Cellular reprogramming · 2020Article
- Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.Molecular genetics & genomic medicine · 2018Article
- Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).Expert opinion on orphan drugs · 2017Article
- Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Molecular syndromology · 2014Article
- A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.JIMD reports · 2014Article
- Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.BMC medical genetics · 2013Article
- Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.Journal of inherited metabolic disease · 2010Article
- Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.American journal of medical genetics. Part A · 2008Review
- Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.American journal of human genetics · 1997Article
- Heritability of X chromosome--inactivation phenotype in a large family.American journal of human genetics · 1996Article
- X inactivation of the FMR1 fragile X mental retardation gene.Journal of medical genetics · 1995Article
- Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.American journal of human genetics · 1995Article
- The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.American journal of human genetics · 1993Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the results of studies on the characterization of the mutation associated with marked unbalanced expression of the mutant X chromosome in a karyotypically normal girl with Hunter disease (mucopolysaccharidosis type II). Southern analysis of DNA extracted from somatic cell hybrids containing only the mutant X chromosome showed deletion of the Xq27.3-q28 loci: DXS297 (VK23AC), DXS293 (VK16), FRAXA (pfxa3), DXS296 (VK21A), and the 3' end of the iduronatesulfatase (IDS) gene. The flanking loci--DXS52 (St14-1), DXS304 (U6.2), and DXS369 (RN1)--were intact. On the basis of these results, we concluded that the mutation was a simple deletion extending a maximum of 3-5 cM to the centromeric side of the IDS gene. Both Southern analysis of DNA from somatic cell hybrids, using short segments of IDS cDNA, and PCR of reverse-transcribed RNA from cultured skin fibroblasts indicated that the telomeric terminus of the deletion was localized to a region near the middle of the coding sequences of the gene.
Indexed as
Identifiers
1642233PMC1682679W14317953What OpenQuestion holds
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.