Identification of a non‐fluorescent isodicentric Y chromosome by molecular cytogenetic techniques

Macera, Michael J.; Sherman, Jack E.; Shah, Harshad O; Blumberg, Denise L.; Buttice, L.S.; Lin, Jen Hui; Verma, Ram S.

doi:10.1111/j.1399-0004.1994.tb04180.x

Cited by 8 publications

(1 citation statement)

References 8 publications

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“…An SMC is a structurally abnormal chromosome of unknown origin. Since the chromosomal origin of SMCs cannot be determined by conventional cytogenetic techniques, a number of molecular approaches have been described in the literature to elucidate their exact nature (Speleman et al 1990, Macera et al 1994). We used a novel methodology, which involves a combination of PCR/nested PCR-Southern bIot analysis and FISH, in order to determine the origin of SMCs, even in patients with a low level of SMC mosaicism.…”

Section: (Sry) Testis Specific Protein X-encoded (Tspy)mentioning

confidence: 99%

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

et al. 1997

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DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 patients with stigmata of Turner syndrome to determine whether the Supernumerary Marker Chromosome (SMC) found cytogenetically in each of these patients was derived from the Y chromosome. The presence of a Y chromosome in these patients may predispose them to develop gonadoblastoma. PCR‐Southern blot analysis, followed by FISH, was used to detect the presence of Y chromosome material. The Sex determining Region Y (SRY), Testis Specific Protein Y‐encoded (TSPY) and Y‐chromosome RNA Recognition Motif (YRRM) genes, which map at Yp11.31, Yp11.1–11.2 and Yp11.2/Yq11.21–11.23, respectively, were selected as markers, because they span the whole Y chromosome, and more importantly, they are considered to be involved in the development of gonadoblastoma. It was shown that in 12 patients, all of whom had an SMC, the SMC of 11 was derived from the Y chromosome. Furthermore, the presence of the SRY, TSPY and YRRM gene sequences was determined and FISH analysis confirmed the Y origin of the SMCs. The methodology described in this report is a rapid, reliable and sensitive approach which may be easily applied to determine the Y origin of an SMC carried in Turner syndrome. The identification of an SMC is important for the clinical management and prognostic counseling of these patients with Turner syndrome.

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Section: (Sry) Testis Specific Protein X-encoded (Tspy)mentioning

confidence: 99%

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

et al. 1997

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PCR and FISH analysis of a ring Y chromosome

et al. 1997

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A newborn male infant presented with midshaft hypospadias, chordee, and undescended left testis. Both gonads lacked the tunica albuginea and appeared to be adjacent to structures resembling fallopian tubes. On biopsy, there was marked dysgenesis of both gonads, with a paucity of testicular tubules and foci of ovarian-like stroma. Peripheral blood karyotype was 46,X,mar(Y) [39]/45,X [5]. Right gonadal biopsy material showed the same mosaicism but with a higher proportion of 45,X cells (46%). PCR and FISH analyses with primers/probes from different Yp, Yq, and Ycen loci defined the structure of the marker Y as a probable complex ring with breakpoints in Yq11.21 (very close to the centromere) and in Yp11.32 (the pseudoautosomal region). Based on the phenotype and the laboratory findings, the prognosis given to the patient was for short stature and azoospermia without an increased risk for gonadoblastomas.

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Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

et al. 1997

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Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of Ullrich-Turner syndrome, mental retardation, and minor anomalies or ambiguous genitalia; three were spontaneous abortuses. Twelve markers were derived from the X chromosome and eleven from the Y chromosome; this demonstrates successfully the value and necessity of FISH utilizing DNA probes in the identification of sex chromosome markers. Both fresh and older slides, some of which had been previously G-banded, were used in these determinations. We have also reviewed the literature on sex chromosome markers identified using FISH.

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Identification of a non‐fluorescent isodicentric Y chromosome by molecular cytogenetic techniques

Cited by 8 publications

References 8 publications

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

PCR and FISH analysis of a ring Y chromosome

Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

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