ArticleJournal of medical genetics1995
A familial Xp+ chromosome, dup (Xq26.3-->qter).
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 30 citations in OpenAlex.
- Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC medical genomics · 2024Review
- The nexus of prematurity, birth defects, and intrauterine growth restriction: a role for plac1-regulated pathways.Frontiers in pediatrics · 2014Review
- Clinical impacts of genomic copy number gains at Xq28.Human genome variation · 2014Review
- MECP2 duplications in six patients with complex sex chromosome rearrangements.European journal of human genetics : EJHG · 2011Article
- 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
- Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion.European journal of pediatrics · 2004Article
- Functional disomy resulting from duplications of distal Xq in four unrelated patients.Human genetics · 2004Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A maternally transmitted Xp+ chromosome was associated with an abnormal phenotype, including developmental delay and short stature, in two male cousins and their 12 year old aunt. The respective mothers were not mentally impaired but had short stature. The G banding pattern identified the extra chromosome segment as a repeat of Xq26.3-->qter attached to an apparently intact Xp22.3 sub-band, so the Xp+ chromosome may be described as rea(X)(Xqter-->p22.3::Xq26.3-->Xqter). The rearranged chromosome was late replicating in 97 to 100% of the metaphases in the mothers but it was early replicating in 43% of the lymphocytes in the mentally defective female (n = 100 cells/subject). Fluorescence in situ hybridisation using X and Y chromosome paints, as well as cosmids A and 1A1 specific for loci within Xq28, confirmed both the identity of the extra segment and the entirety of the Xp pseudoautosomal region. Therefore, the phenotypic consequences in this family can be related to the Xq26.3-->qter functional disomy allowing for the effects of X inactivation in the female carriers.
Indexed as
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What 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.