Monozygotic twins of discordant sex both with 45, X/46, X, idic(Y) mosaicism

Fujimoto, Atsuko; Boelter, William D.; Sparkes, Robert S.; Lin, Min-Sheng; Battersby, Kathleen

doi:10.1002/ajmg.1320410222

Cited by 41 publications

(24 citation statements)

References 7 publications

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“…In the fifth study, no virilization has been described so far in a remarkable mosaicism including a 47,X,idic(Y)(q11),idic(Y) cell line with the SRY region present in lymphocytes and gonads [Jenderny et al, 1998]. The monozygotic twins described by Fujimoto et al [1991] were of different gender in spite of the same underlying chromosomal abnormality; however, there was a difference in the ratio of cell lines and tissue mosaicism. Significant variation in tissue distribution of a Y-derived marker has been described in UTS mosaic patients [Petrusevka et al, 1996].…”

Section: Discussionmentioning

confidence: 94%

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

et al. 2000

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We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism).

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Section: Discussionmentioning

confidence: 94%

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

et al. 2000

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“…The resultant phenotype can vary from normal male to classical UllrichTurner syndrome (UTS) [Chang et al, 1990;Hsu, 1989Hsu, , 1994. Nine sets of monozygotic twin pairs (MZTs) in which one or both twins had 45,X/46,XY mosaicism and discordance for phenotypic sex have been reported [Turpin et al, 1961;Lejeune and Aurias, 1976;Edwards et al, 1966;Karp et al, 1975;Schmidt et al, 1976;Reindollar et al, 1987;Arizawa et al, 1988;Perlman et al, 1990;Gonsoulin et al, 1990;Fujimoto et al, 1991]. We describe here two additional sets of twins ascertained in infancy when the females were noted to have signs of the Ullrich-Turner syndrome.…”

Section: Introductionmentioning

confidence: 98%

Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex

et al. 1998

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We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from two skin biopsies at separate sites and from gonadal tissue showed only 45,X cells. The male showed mosaicism in both blood lymphocytes and skin fibroblasts. In the second family, both twins also showed mosaicism in lymphocytes. The female had a 45,X karyotype in fibroblasts from skin and gonadal tissue, but in contrast to the first family, the male twin had a normal male karyotype in fibroblasts from skin biopsy and from connective tissue adjacent to the vas deferens. Discordant phenotypic sex in monozygotic twins is rare. As in our cases, the nine previously reported sets of MZTs all had mosaicism for sex chromosome abnormalities. A mitotic error leading to the loss of a Y chromosome prior to, accompanying, or following the twinning process would account for the reported combinations of karyotypes.

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“…It is the effect of the level of 45,X cell line mosaicism in the developing gonad that is believed to be the most in¯uential in the wide variability of clinical expression of sex differentiation [Hsu, 1994;Stuppia et al, 1996;Teraoka et al, 1998]. This hypothesis is con®rmed by the analysis of apparently normal boy and girl monozygotic twins with Turner syndrome with the same 45,X/46,X,idic(Y)(p11) karyotypes [Fujimoto et al, 1991]. The second causative factor of variability of clinical manifestation is the tissue distribution of Y chromosome material often encompassing the SRY gene [Reddy et al, 1996;Kelly et al, 1998].…”

Section: Introductionmentioning

confidence: 98%

Cytogenetic and molecular characterization of two isodicentric Y chromosomes

Stankiewicz¹,

Hélias‐Rodzewicz²,

Jakubów-Durska³

et al. 2001

Am. J. Med. Genet.

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We report the results of detailed molecular-cytogenetic studies of two isodicentric Y [idic(Y)] chromosomes identified in patients with complex mosaic karyotypes. We used fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to determine the structure and genetic content of the abnormal chromosomes. In the first patient, classical cytogenetics and FISH analysis with Y chromosome-specific probes showed in peripheral blood lymphocytes a karyotype with 4 cell lines: 45,X[128]/46,X,+idic(Y)(p11.32)[65]/47,XY,+idic(Y)(p11.32)[2]/47,X,+2idic(Y)(p11.32)[1]. No Y chromosome material was found in the removed gonads. For precise characterization of the Yp breakpoint, FISH and fiberFISH analysis, using a telomeric probe and a panel of cosmid probes from the pseudoautosomal region PAR1, was performed. The results showed that the breakpoint maps approximately 1,000 Kb from Ypter. The second idic(Y) chromosome was found in a boy with mild mental retardation, craniofacial anomalies, and the karyotype in lymphocytes 47,X,+idic(Y)(q11.23),+i(Y)(p10)[77]/46,X,+i(Y)(p10)[23]. To our knowledge, such an association has not been previously described. FISH and PCR analysis indicated the presence of at least two copies of the SRY gene in all analyzed cells. Using 17 PCR primers, the Yq breakpoint was shown to map between sY123 (DYS214) and sY121 (DYS212) loci in interval 5O in AZFb region. Possible mechanisms of formation of abnormal Y chromosomes and karyotype-phenotype correlations are discussed.

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Monozygotic twins of discordant sex both with 45, X/46, X, idic(Y) mosaicism

Cited by 41 publications

References 7 publications

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex

Cytogenetic and molecular characterization of two isodicentric Y chromosomes

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