The occurrence of gonadal dysgenesis in association with monozygotic twinning.

Karp, Laurence E.; Bryant, Jean I.; Tagatz, George E.; Giblett, Eloise R.; Fialkow, Philip J.

doi:10.1136/jmg.12.1.70

Cited by 27 publications

(18 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of the twin pairs described to date the majority were infants or children when the risk of gonadoblastoma is still low [Troche et al, 1986]. Three twin pairs remained well at ages 15, 17, and 21 years of age [Edwards et al, 1966;Karp et al, 1975;Schmidt et al, 1976], but two of the females had undergone surgical removal of streak gonads [Karp et al, 1975;Schmidt et al, 1976]. In addition to the two females reported here, five reported cases have had gonadal histology done: 17-year-old female [Karp et al, 1975], 15-year-old female [Schmidt et al, 1976], 4-month-old male [Reindollar et al, 1987], 2-month-old female [Reindollar et al, 1987], and 26 week gestation female [Perlman et al, 1990].…”

Section: Discussionmentioning

confidence: 96%

“…In all cases, the females had UTS anomalies. In addition, one female [Karp et al, 1975] had signs of masculinization (clitoromegaly and hirsutism) and another had ambiguous genitalia [Reindollar et al, 1987].…”

Section: Discussionmentioning

confidence: 99%

“…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%

See 2 more Smart Citations

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

et al. 1998

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

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

et al. 1998

View full text Add to dashboard Cite

show abstract

“…Yet the Y chromosome must have been present in some gonadal cells, as indicated by the occurrence of a testicular architecture. Karp et al (1975) noted that the karyotype of one tissue need not reflect the karyotype of another. Their findings indicated mosaicism as the cause of disparate phenotypic development in their patients, and provided a precedent for the present study (see also the study by Edwards et al (1966) of a 45,X/ 46,XY female and her 45,X monozygotic twin brother).…”

Section: Discussionmentioning

confidence: 99%

“…Indeed, monozygotic twins with discordant sex phenotypes have been described by others (Table 2) and in all cases the karyotypes involved 46,XY and/or 45,X cell lines. In the study by Karp et al (1975) the male was 46,XY, and the female was a 46,XY/45,X mosaic with Turner stigmata. The right gonad of the female was a streak, but histological study of the left gonad revealed a "focus of seminiferous tubules."…”

Section: Discussionmentioning

confidence: 99%

Monozygotic twins of opposite sex

Wachtel

Somkuti²,

Schinfeld³

2000

Cytogenet Genome Res

View full text Add to dashboard Cite

Although discordant karyotypes are known in identical twins, cases involving differences in sex phenotype are rare. We studied identical twins with the 46,XY karyotype – a male with mixed gonadal dysgenesis and a female with “pure” gonadal dysgenesis. The testis-determining SRY gene was present in DNA from both twins but no mutations were detected in the SRY conserved motif. Monozygosity was indicated by short tandem repeat polymorphism analysis. These observations could be attributed to (i) mutation and mosaicism involving “downstream” sex-determining loci, (ii) variable penetrance of genes such as DSS/NR0B1, duplication of which can disrupt the male-determining pathway, or (iii) occurrence of cryptic 45,X gonadal cell lines.

show abstract

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

Machin¹

1996

Am. J. Med. Genet.

297

161

View full text Add to dashboard Cite

The use of the adjective “identical” rather than monozygotic leads to misunderstandings about the biology of monozygotic twinning. Most monozygotic twin pairs are not identical; there may be major discordance for birth weight, genetic disease, and congenital anomalies. These indicate that postzygotic events may lead to the formation of two or more cell clones in the inner cell mass and early embryo that actually stimulate the monozygotic twinning event. There is also evidence that there may be unequal allocation of numbers of cells to the monozygotic twins; this may have widespread implications for the cascade of developmental events during embryogenesis, formation, and vascularization of the placenta. Large‐scale zygosity testing at birth could be the template for analysis of twin outcomes and their biologic causes. © 1996 Wiley‐Liss, Inc.

show abstract

The occurrence of gonadal dysgenesis in association with monozygotic twinning.

Cited by 27 publications

References 26 publications

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

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

Monozygotic twins of opposite sex

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

Contact Info

Product

Resources

About