ArticlePloS one2008
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Transcriptional analysis of cleft palate in TGFβ3 mutant mice.Scientific reports · 2020Article
- Assessment of the key regulatory genes and their Interologs for Turner Syndrome employing network approach.Scientific reports · 2018Article
- Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism.Journal of genetics · 2015Article
- Chromosome Y genetic variants: impact in animal models and on human disease.Physiological genomics · 2015Review
- Analysis of Sry duplications on the Rattus norvegicus Y-chromosome.BMC genomics · 2013Article
- Review of the Y chromosome, Sry and hypertension.Steroids · 2010Review
- AZFc region of the Y chromosome shows singular structural organization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2010Article
- Regulation of multiple renin-angiotensin system genes by Sry.Journal of hypertension · 2010Article
- Y chromosome in Turner syndrome: review of the literature.Sao Paulo medical journal = Revista paulista de medicina · 2009Review
- The Use of FluorescenceJournal of human reproductive sciencesArticle
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Presence of the human Y-chromosome in females with Turner Syndrome (TS) enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS) patients and detected high level of mosaicisms ranging from 45,XO:46,XY = 100:0% in 4; 45,XO:46,XY:46XX = 4:94:2 in 8; and 45,XO:46,XY:46XX = 50:30:20 cells in 3 TS patients, unlike previous reports showing 5-8% cells with Y- material. Also, no ring, marker or di-centric Y was observed in any of the cases. Of the two TS patients having intact Y chromosome in >85% cells, one was exceptionally tall. Both the patients were positive for SRY, DAZ, CDY1, DBY, UTY and AZFa, b and c specific STSs. Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was normal in 8 TS patients while the remaining 7 showed either absence of this gene or known and novel mutations within and outside of the HMG box. SNV/SFV analysis showed normal four copies of the DAZ genes in these 8 patients. All the TS patients showed aplastic uterus with no ovaries and no symptom of gonadoblastoma. Present study demonstrates new types of polymorphisms indicating that no two TS patients have identical genotype-phenotype. Thus, a comprehensive analysis of more number of samples is warranted to uncover consensus on the loci affected, to be able to use them as potential diagnostic markers.
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