ReviewAmerican journal of human genetics1994
Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.
Review in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 75 citations in OpenAlex.
- Modulating gene expression as a strategy to investigate thyroid cancer biology.Archives of endocrinology and metabolism · 2024Review
- Article
- Unique case reports associated with ovarian failure: necessity of two intact x chromosomes.Case reports in genetics · 2012Article
- Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.Molecular cytogenetics · 2008Article
- Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.Indian journal of pediatrics · 2000Review
- Update and Review: Supernumerary Marker Chromosomes.Journal of genetic counseling · 2000Article
- Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.American journal of human genetics · 1999Article
- Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Journal of medical genetics · 1998Article
- Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.Journal of medical genetics · 1998Article
- Genetic control of X inactivation and processes leading to X-inactivation skewing.American journal of human genetics · 1996Review
- Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.Journal of medical genetics · 1996Review
- XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure.The Journal of cell biology · 1996Article
- Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.American journal of human genetics · 1996Article
- Partial disomy of Xp and the presence of SRY in a phenotypic female.Journal of medical genetics · 1995Article
- Generation of a human X-derived minichromosome using telomere-associated chromosome fragmentation.The EMBO journal · 1995Article
- Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.American journal of human genetics · 1995Article
- Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.Journal of medical genetics · 1995Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromosomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq13.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely the DNA content of mar(X) chromosomes and to correlate phenotype with karyotype, we studied small mar(X) chromosomes, using FISH with probes in the juxtacentromeric region. One of the probes was a 40-kb genomic cosmid for the XIST gene, which maps to the smallest interval known to contain the XIC and is thought to be involved in X inactivation. Our findings reveal that small mar(X) chromosomes do not include the XIC and therefore cannot be subject to X inactivation, supporting the premise that abnormal dosage of expressed genes in the pericentromeric region of the X generates the aberrant phenotype seen in patients with small mar(X) chromosomes.
Indexed as
Identifiers
8023855PMC1918222W1522384187What 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.