Turner syndrome resulting from partial deletion of Y chromosome short arm: Localization of male determinants

Magenis, R. Ellen; Tochen, Mark L.; Holahan, Kathleen P.; Carey, Thomas C.; Allen, Leland; Brown, Michael G.

doi:10.1016/s0022-3476(84)80077-3

Cited by 51 publications

(18 citation statements)

References 23 publications

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“…It might be difficult to exclude this possibility at the moment. But the very small part of Yq that we proposed in the present report is consistent with most of the previous reports (Page, 1986(Page, , 1987Lukusa et al, 1986;Disteche et al, 1986;Cantrell et al, 1989;Magenis et al, 1984). One of the author of this study (Y.N.)…”

Section: Discussionsupporting

confidence: 93%

DNA analysis of two patients with a non-fluorescent y chromosome

Sekine¹,

Fukutani²,

Motegi³

et al. 1992

Jap J Human Genet

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Section: Discussionsupporting

confidence: 93%

DNA analysis of two patients with a non-fluorescent y chromosome

Sekine¹,

Fukutani²,

Motegi³

et al. 1992

Jap J Human Genet

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“…Most 46,XY females with the Turner phenotype are mosaic, with a 45,X cell line in addition to the 46,XY cell line. Two 46,XY patients with features of Turner syndrome and no evidence of mosaicism were shown to have a deletion of the short arm of the Y chromosome (6,7). This and other more complex chromosomal rearrangements confirm that functions essential to normal male differentiation are found on the short arm of the Y chromosome.…”

mentioning

confidence: 73%

Small deletions of the short arm of the Y chromosome in 46,XY females.

Distèche¹,

Casanova²,

Saal³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

128

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Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from small deletions of the short arm of the Y chromosome. Prometaphase chromosome analysis showed a 46,X,Yp-karyotype. Several Y chromosome-specific DNA probes were found to be deleted in the two female patients. DNA analysis showed that the two deletions were different but included a common overlapping region likely to be essential for male determination.

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“…Turner syndrome females are characterized by short stature, gonadal dysgenesis, and various anatomic abnormalities (24). Deletion analysis of certain XY females with and without the somatic abnormalities characteristic of Turner syndrome has indicated that the Turner phenotype maps to interval 1 or 2 ofthe Y short arm (25,26). Within this region the gene RPS4Y has been cloned.…”

Section: Discussionmentioning

confidence: 99%

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

McElreavy

Vilain

Abbas

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

167

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The human testis-determining factor resides within a 35-kilobase (kb) region of the Y chromosome immediately adjacent to the pseudoautosomal buary. A candidate gene for human sex determination (SRY) was isolated in this region. Here, we describe a study of 25 cases of XY females with pure gonadal dysgenesis for mutations on the Y chromosome short arm, including SRY. Southern blotting revealed a sex-reversed female harboring a deletion extending from -8 kb from the pseudoautosomal boundary of the Y chromosome to at least 33 kb and no more than 60 kb upstream, toward the centromere. The deletion begins no more than 1.8 kb upstream from the first ATG of the SRY open reading frame present in the clone pY53.3. To our knowledge, no mutation has been described previously outside the SRY "HMG box" on the short arm of the Y chromosome, which is assoiated with sex reversal. Since the 5' extent of the SRY tnswriptional unit has not been defined, the deletion may remove up m exons of SRY and/or transcriptional regulatory motifs, either situation resulting in lack of ticular development. It cannot be formally excluded that the mutation removes a second locus, independent of SRY, that is critical for sex deternmnation. Denaturant gradient gel electrophoresis analysis of the SRY open reading frame in the remaining 24 cases revealed de novo single base-pair transitions in the SRY conserved domain in 4 cases.

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Turner syndrome resulting from partial deletion of Y chromosome short arm: Localization of male determinants

Cited by 51 publications

References 23 publications

DNA analysis of two patients with a non-fluorescent y chromosome

DNA analysis of two patients with a non-fluorescent y chromosome

Small deletions of the short arm of the Y chromosome in 46,XY females.

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

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