ArticleHuman genetics1992
Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes.
Article in Human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.Journal of assisted reproduction and genetics · 2016Article
- Unique case reports associated with ovarian failure: necessity of two intact x chromosomes.Case reports in genetics · 2012Article
- Y-chromosome markers in Turner syndrome: Screening of 130 patients.Journal of endocrinological investigation · 2010Article
- 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
- 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
- Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.Journal of medical genetics · 1995Article
- Detection of Y mosaicism in patients with Turner's syndrome.Journal of medical 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
- Y Chromosomal Sequences Identified in Gonadal Tissue of Two 45,X Patients with Turner Syndrome.Endocrine pathology · 1995Article
- The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.American journal of human genetics · 1994Article
- Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.American journal of human genetics · 1994Review
- Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.Proceedings of the National Academy of Sciences of the United States of America · 1993Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Cytogenetic and molecular techniques were employed to determine the origin of marker chromosomes in five patients with mosaic 45,X karyotypes. The markers were shown to be derived from the X chromosome in three female patients and from the Y chromosome in one female and one male. One of the female patients, with a very small, X-derived ring chromosome, had additional phenotypic abnormalities not typically associated with Turner syndrome. In this patient, both the ring and the normal X chromosomes replicated early; perhaps the unusual phenotype is the result of both chromosomes remaining transcriptionally active. These studies illustrate the power of resolution and utility of combined cytogenetic and molecular approaches to some clinical cases.
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