Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis

Kirkilionis, A. J.; Rodney, P.; Sergovich, F. R.; Armstrong, Ross F.

doi:10.1002/pd.1970070708

Cited by 5 publications

(5 citation statements)

References 14 publications

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“…There have been two other reports of a similar sex chromosome mosaicism in the fctus that went undetected at amniocentesis. In one, the amniocentesis result was 46,XY and the near-normal male infant had a 45,X/46,XY karyotype (Ladda, 1977). The other case showed only 45,X cells at amniocentesis, but the aborted phenotypically normal female fetus had a mosaic karyotype 45,X/46,X,Ynf (Nocera et al, 1985).…”

Section: Discussionmentioning

confidence: 93%

“…The phenotype of postnatally ascertained cases of 45,X/46,XY mosaicism varies from normal female through Turner syndrome and varying degrees of virilization to normal male. However, in the more than 50 cases of prenatally diagnosed 45,X/ 46,XY mosaicism that have been reported (Kirkilionis et al, 1987;Wheeler et al, 1988;Hsu, 1989), the phenotype is overwhelmingly normal or near-normal male. It hais therefore been recommended that careful ultrasound of the uro-genital system be carried out when 45,X/46,XY mosaicism is detected prenatally.…”

Section: Discussionmentioning

confidence: 99%

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Sex chromosome mosaicism not detected at amniocentesis

1990

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Sex chromosome mosaicism not detected at amniocentesis

1990

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“…The association between Y"' and 45,X/46,XYnf has been noted since 1971 (Caspersson et u/., 1971). Further cytogenetic studies indicated that the Y nf is in fact a pseudo-dicentric chromosome with duplication of Yp and euchromatic Yq sequences, and with a loss of Yq heterochromatin (Magenis and Donlon, 1982;Wisniewski and Hirschhorn, 1982;Magenis et al, 1985;Ganshirt-Ahlert et al, 1987). The dicentric nature of the Ynf chromosome possibly predisposes it for anaphase lag or mitotic non-disjunction resulting in mosaicism.…”

Section: Discussionmentioning

confidence: 99%

“…A further North American survey (Hsu, 1986) and recent ongoing data collection (Hsu, unpublished data) brought the number of45,X/46,XY mosaicism cases to 47. With the addition of seven recently published cases (Kirkilionis et al, 1987, Wheeler et al, 1988, a total of 54 cases was reviewed. The diagnosis of chromosome mosaicism was based on the findings of both cell lines (45,X and 46,XY) in a minimum of two independently cultured vessels.…”

Section: Methodsmentioning

confidence: 99%

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Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update

Hsu

1989

Prenatal Diagnosis

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A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89.4 per cent) were reported to be associated with a grossly normal male phenotype. Three cases (6.4 per cent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70.0 per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.

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Confirmation of prenatal diagnosis of sex chromosome mosaicism

McFadden

Kalousek

1989

Am. J. Med. Genet.

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Prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.

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Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis

Cited by 5 publications

References 14 publications

Sex chromosome mosaicism not detected at amniocentesis

Sex chromosome mosaicism not detected at amniocentesis

Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update

Confirmation of prenatal diagnosis of sex chromosome mosaicism

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