Screening for Y-Derived Sex Determining Gene SRY in 40 Patients with Turner Syndrome

Medlej, J; Lobaccaro, Jean‐Marc; Berta, Philippe; Belnon, C; Leheup, Bruno; Toublanc, J E; Weill, Jacques; Chevalier, Claudine; Dumas, Robert; Sultan, Charles

doi:10.1097/00019616-199303000-00015

Cited by 6 publications

(8 citation statements)

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“…Reactions were performed in a final volume of 50μl containing 0.1μg of genomic DNA; 1.5 m M of MgCl 2 ; 0.2 m M of each dNTP; 0.5μM of each primer and 2.5 U of Taq DNA polymerase. Amplification was carried out in a thermal MiniCycler (Programmable Thermal Controller, Model PTA‐150 from Worklab, USA) for 30 cycles, with different programmes for each primer pair (Y1 and Y2: denaturation at 94°C for 60 s; annealing at 64°C for 90 s and extension at 70°C for 150 s (adapted from Medlej et al ., 1992); ZFY5.1 and ZFY6.1: denaturation at 94°C for 60 s; annealing at 61°C for 90 s and extension at 70°C for 150 s (adapted from Barbosa et al ., 1995); DYZ 3 A and DYZ 3 B: denaturation at 94°C for 60 s; annealing at 55°C for 90 s and extension at 70°C for 150 s (adapted from Kocova et al ., 1993)). All PCR products (6μl) were submitted to 1.8% agarose gel electrophoresis and stained with ethidium bromide.…”

Section: Methodsmentioning

confidence: 99%

Y‐chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y‐mosaicism

Mendes¹,

Strufaldi²,

Delcelo³

et al. 1999

Clinical Endocrinology

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Section: Methodsmentioning

confidence: 99%

Y‐chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y‐mosaicism

Mendes¹,

Strufaldi²,

Delcelo³

et al. 1999

Clinical Endocrinology

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“…The tumor CommoIJy progresses into an invasive dysgerminoma but may also devolve into another form of malignant germ cell tumor. Considering the potential risk of these patients, it was previously suggested to screen all TS patients for the presence of Y sequences (4,12,7). Individuals at risk for gonadoblastoma are usually advised to undergo prophylactic gonadectomy, or at least gonadal examination via laparoscopy…”

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confidence: 99%

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

et al. 1998

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The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15–25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combination of polymerase chain reaction (PCR) and nested PCR followed by Southern blot analysis of three genes—the sex determining region Y (SRY), testis specific protein Y encoded (TSPY) and RNA binding motif protein (RBM) (previously designated as YRRM) and nine additional STSs spanning all seven intervals of the Y chromosome. The methodology has a high sensitivity as it detects one 46, XY cell among 105 46, XX cells. Reliability was ensured by taking several precautions to avoid false positive results. We report the results of screening 50 TS patients and the identification of cryptic Y chromosome material in 12 (24%) of them. Karyotypes were divided in four groups: 5 (23.8%) patients out of the 21 TS patients which have the 45, X karyotype (group A) also have cryptic Y sequences; none (0%) of the 7 patients who have karyotypes with anomalies on one of the X chromosomes have Y mosaicism (group B); 1 (6.3%) of the 16 patients with a mosaic karyotype have Y material (group C); and 6 (100%) out of 6 patients with a supernumerary marker chromosome (SMC) have Y chromosome sequences (group D). Nine of the 12 patients positive for cryptic Y material were recalled for a repeat study. Following new DNA extraction, molecular analysis was repeated and, in conjunction with fluorescent in situ hybridization (FISH) analysis using the Y centromeric specific probe Yc‐2, confirmed the initial positive DNA findings. This study used a reliable and sensitive methodology to identify the presence of Y chromosome material in TS patients thus providing not only a better estimate of a patient's risk in developing either gonadoblastoma or another form of gonadal tumor but also the overall incidence of cryptic Y mosaicism.

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“…Recently "hidden" mosaics not detected at the cytogenetic examination have been detected by PCR. Medlej et al (1992) detected Y chromosomal material in 1 out of 40 Turner females using a set of primers from the SRY gene. This female showed mild clinical and biological hyperandrogenism.…”

Section: Discussionmentioning

confidence: 99%

“…1988, De Arce et al 1992, Nagafuchi et al 1992b). The introduction of the PCR technique has revealed the existence of "hidden" mosaics not detected at the cytogenetic examination (Medlej et al 1992, Kocova et al 1993. Recently there has been considerable controversy as to which subgroup of females with Turner syndrome should be tested for the existence of Y chromosomal material and what consequences should be drawn from the finding of Y chromosomal "hidden" mosaicism (Kocova et al 1993, Held 1993, Page 1994, Kocova & Trucco 1994.…”

mentioning

confidence: 99%

Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically

Larsen¹,

Gravholt²,

Tillebeck³

et al. 1995

Clinical Genetics

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Our study confirms the finding that about 85% of X chromosomes in Turner girls are maternally derived. A new observation is the detection of a high frequency of mosaicism (15%) in Turner girls who by cytogenetic analysis were thought to have a pure 45,X karyotype. DNA examination of the material was done by hybridization with digoxigenin labelled, non‐radioactive probes, and PCR products for microsatellite analysis were run on polyacrylamide gels. We screened for the presence of “hidden” Y chromosome mosaicism, using the primers SRY, ZFY, DYZ3, DYZ1 and DYS132. Contrary to other reports using the PCR technique to unravel “hidden” Y chromosome mosaics, we did not find any positive cases. A precise technical protocol for these new techniques is given, and the advantages are discussed.

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Screening for Y-Derived Sex Determining Gene SRY in 40 Patients with Turner Syndrome

Cited by 6 publications

References 0 publications

Y‐chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y‐mosaicism

Y‐chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y‐mosaicism

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically

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