Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.

@article{CortsGutirrez2012MolecularDO,
  title={Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.},
  author={Elva I. Cort{\'e}s-Guti{\'e}rrez and Rosalba Herrera-Bartolo and Martha Imelda D{\'a}vila-Rodr{\'i}guez and Gerardo del Carmen Palacios-Saucedo and Javier Vargas-Villarreal and Juana B Romero-Villarreal},
  journal={Oncology reports},
  year={2012},
  volume={28 4},
  pages={
          1205-10
        }
}
A systematic search for a hidden Y-chromosome mosaicism, in Turner syndrome (TS) patients is justified by the evaluation of the risk of development of germ cell tumors. In this study, we analyzed cryptic Y-chromosome derivatives by polymerase chain reaction (PCR) coupled with fluorescence in situ hybridization (FISH) using Y-specific sequences in patients with TS, and validated this methodology. Unrelated patients with TS (n=32) of… Expand
Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome
TLDR
A high prevalence of Y chromosomal material in TS was shown, and Y markers were also observed in patients who had no Y chromosome in their karyotype, and PCR is very precise in detecting the presence of genetic material from the Y chromosome. Expand
Identification of Y-Chromosome Sequences in Turner Syndrome
TLDR
The PCR technique showed that 2 of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis, very similar to those reported previously. Expand
Detection of the SRY gene in patients with Turner Syndrome.
TLDR
If Y-chromosome material has not been detected by conventional cytogenetic methods in TS patients with masculine features, further techniques should be applied to prevent the risk of invasive tumors, such as multiple sequences beside the Y centromere. Expand
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material
TLDR
Molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease. Expand
Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
TLDR
According to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype, and in patients who test positive for these sequences, gonadoblastoma needs to be investigated. Expand
Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk
TLDR
A woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13), indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. Expand
Novel Insights from Clinical Practice
Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromo­ some material has been observed in about 10% of patients. Y chromosome material inExpand
A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing
TLDR
It is concluded that embryonal carcinoma can apparently occur in 45,X TS without signs of Y chromosomal material. Expand
Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
TLDR
Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities, including deletion, translocation, isochromosome, and ring chromosome. Expand
Y Chromosome Sequences in Turner Syndrome: Multiplex PCR, a New Method for Diagnosis
TLDR
Y Chromosome Sequences in Turner Syndrome: Multiplex PCR, a New Method for Diagnosis is presented. Expand
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References

SHOWING 1-10 OF 43 REFERENCES
Y-chromosome markers in Turner syndrome: Screening of 130 patients.
TLDR
A routine molecular screening for hidden Y- chromosome sequences in Turner patients, who are negative for Y-chromosome by conventional cytogenetic analysis, is recommended in order to calculate the future risk of developing gonadoblastoma. Expand
Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome
TLDR
It was concluded that PCR is efficient in the investigation of hidden Y-fragments in TS patients and should be included in the routine assistance of these patients. Expand
Molecular analysis in Turner syndrome.
TLDR
The results suggest that the detection of Y-chromosome material should be carried out in all patients with Turner syndrome and not be limited to patients with TS with cytogenetically identifiable Y chromosome and/or virilization. Expand
Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome
TLDR
Using polymerase chain reaction of the gene from the sex-determining region of the Y chromosome, screening patients for the presence of Y chromosomal DNA was screened and karyotypically unrecognized Y chromosome material was identified in 1 patient out of the 40 studied. Expand
Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.
TLDR
Using polymerase chain reaction of the gene from the sex-determining region of the Y chromosome, the presence of a Y chromosome or derivative Y is screened for in Turner patients and karyotypically unrecognized Y chromosome material is identified in 1 patient. Expand
Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.
TLDR
It has been found by PCR analysis that 5% of patients with a 45,X karyotype have Y chromosome sequences in the absence of any marker chromosome by cytogenetic analysis, suggesting that these patients should be analyzed for the presence of Y chromosome derivatives by sensitive methods in order to calculate the future risk of developing gonadoblastoma. Expand
[Identification of Y-chromosome by Molecular Analysis in Patients with Turner Syndrome.].
TLDR
It may be reasonable to consider using a PCR method to screen for Y-specific sequences in all patients with TS, and FISH may be another useful method in TS patient, and further investigation is nessessary. Expand
Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method.
TLDR
It is concluded that nested PCR overestimated the frequency of Y sequences in patients with Turner syndrome and should be avoided to prevent false positive results, which lead to unnecessary surgical treatment of these patients. Expand
The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes
TLDR
Southern-blot analysis employing 17 Y-specific probes was used to determine whether the marker chromosome was Y-chromosomal in origin, and a polymerase chain reaction technique that could detect 7 loci over the length of the Y chromosome may be useful for the rapid assessment of marker chromosomes. Expand
Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases.
TLDR
A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions. Expand
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