Y chromosome mosaicism in 45, X turner syndrome

Ostrer, Harry; Clayton, C M

doi:10.1002/ajmg.1320340235

Cited by 24 publications

(15 citation statements)

References 16 publications

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“…The incidence of Y chromosome sequences in patients with Turner syndrome has been evaluated in several studies [Ostrer and Clayton, 1989;Jacobs et al, 1990;Medlej et al, 1992;Patsalis et al, 1998], and according to the methodology used, this frequency varied from 0% [Larsen et al, 1995] to 61% [Coto et al, 1995]. Higher frequencies were found when nested PCR or Southern blot of PCR products was employed [Kocova et al, 1993;Binder et al, 1995;Chu et al, 1995;Patsalis et al, 1998].…”

Section: Introductionmentioning

confidence: 99%

Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

et al. 2002

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The incidence of Y chromosome sequences in patients with Turner syndrome has been evaluated in several studies, and its frequency varied from 0% to 61%, depending on the molecular methodology used. The aim of our study was to screen for Y chromosome sequences in 122 patients with Turner syndrome without cytogenetic evidence of this chromosome. DNA of 100 normal women was also screened and it was used as a negative control. To identify cryptic Y mosaicism, eight regions of Y chromosome were amplified by PCR. In order to increase the sensitivity of Y sequence detection, a nested PCR of the SRY and TSPY genes was also performed. All patients had several stigmata of Turner syndrome and none of them presented with signs of virilization. The most frequent karyotype was 45,X (54.1%), followed by mosaicism involving structural aberration of the X chromosome. There were 12 patients who carried a marker or ring chromosome. First-round PCR identified Y chromosome sequences in only four patients (3%), and all of them had a chromosome mosaicism with at least one cell lineage with a marker chromosome. After nested PCR, 25% of the patients and 14% of the normal women were positive for the presence of Y sequences. Contamination with extraneous genomic DNA was ruled out by microsatellite studies, but we cannot eliminate the possibility of contamination with PCR products, despite careful handling. We conclude 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.

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Section: Introductionmentioning

confidence: 99%

Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

et al. 2002

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“…Cytogenetic analysis may fail to detect rare cells bearing a normal or structurally abnormal Y chromosome due to low-level mosaicism or particular tissue distributions [Ostrer and Clayton, 1989;Bisat et al, 1993;Kocova et al, 1995]. Detection of mosaicism depends on several factors, including 1) the number of cells examined [Hook, 1977], 2) the number and type of tissues examined, 3) culture techniques used, and 4) in vivo or in vitro selection against one of the cell lines [Procter et al, 1984].…”

Section: Introductionmentioning

confidence: 99%

“…Y material has been detected in the blood of UTS individuals by PCR-based strategies or Southern blot analysis. However, these studies did not examine the gonads or other tissues to assess the distribution of the Y chromatin [Ostrer and Clayton, 1989;Medlej et al, 1992;Nagafuchi et al, 1992;Binder et al, 1995;Coto et al, 1995;Kocova et al, 1995]. It is important to gather information regarding the correlation between detected Y chromatin in lymphocytes vs. the distribution in the gonads, since it is believed to be the presence of Y chromatin in the gonads that confers the risk for gonadoblastoma.…”

Section: Introductionmentioning

confidence: 99%

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

et al. 2000

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The presence of Y chromatin in individuals with Ullrich-Turner syndrome (UTS) confers a risk for gonadoblastoma. In mosaic cases, little is known about Y chromatin distribution in gonads. Fluorescence in situ hybridization (FISH) is a direct approach to assess the extent of Y chromatin mosaicism in gonads. Gonadal tissue from four patients with mosaic karyotypes were analyzed by routine cytogenetics and FISH with X and Y centromere probes. Y chromatin was present in gonads in varying percentages in these patients. The distribution of Y chromatin in gonads of UTS individuals did not completely correlate with that found in blood lymphocytes. The finding of Y chromatin in the blood samples from these patients prompted the development of a screening strategy in our cytogenetics laboratory to detect low-level Y chromatin mosaicism in patients with UTS.

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“…Patients with ambiguous genitalia and patients with Turner syndrome, beside a 45,X cell line, frequently have an additional one that contains structural abnormalities of the Y chromosome [2][3][4]. While the phenotypic gender can be influenced by the 45,X cell line, 4.0-6.2% of female Turner syndrome patients exhibit Y chromosome mosa icism [5][6][7][9][10][11]. Phenotypic gender strongly depends on the percentage and distribution of the Y chromosome in the gonads, but in the other tissues mosaicism degree is variable [4,7,11].…”

Section: Introductionmentioning

confidence: 99%

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Lungeanu¹,

Arghir²,

Arps³

et al. 2008

Balkan Journal of Medical Genetics

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Y chromosome mosaicism in 45, X turner syndrome

Cited by 24 publications

References 16 publications

Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

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