A cytogenetic study of human spontaneous abortions using banding techniques

Creasy, M. R.; Crolla, John A.; Alberman, Eva

doi:10.1007/bf00296145

Cited by 246 publications

(101 citation statements)

References 19 publications

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“…[1][2][3] Two distinct phenotypes are known to be associated with triploidy. A minority of foetuses presents with moderate growth retardation, proportionately sized body parts and particularly large placentas with partial hydatidiform mole (type I [4][5][6] ).…”

Section: Introductionmentioning

confidence: 99%

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

et al. 2000

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Triploidy is one of the most frequently observed chromosome abnormalities in spontaneous abortions in humans. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the foetuses and to result in differences in size and structure of the placenta. Early studies based on cytogenetic polymorphisms indicated a preponderant diandric origin of the triploidies; such detection method, however, is known to be prone to error. Other studies revealed a predominant digynic origin in cases with longer intrauterine survival. It is now thought that, to some extent, a detection bias in favour of cases with associated partial hydatidiform moles may account for the high incidences of diandric cases reported in some studies. Furthermore, depending on the gestational age of the cases analysed there may indeed be differences in the proportion of diandric and digynic triploidies. We investigated the parental origin and mechanisms of formation of triploidy in a group of 25 probands with gestational ages ranging from 8 to 37 weeks. DNA samples were extracted from foetal material and from blood samples of the parents, and were analysed using microsatellite markers. The parental origin of the triploidies was found to be maternal in 20 cases and paternal in 5. Regarding the digynic cases, an error at meiosis I was inferred in 10 cases, whereas in the other half an error occurred at meiosis II. All five diandric cases included in this study were found to be due to dispermy. No significant differences in the average maternal ages were found amongst the different subgroups of patients. European Journal of Human Genetics (2000) 8, 911-917.

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Section: Introductionmentioning

confidence: 99%

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

et al. 2000

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“…The highest sex ratios were obtained by studies from this laboratory (Dhadial, Machin and Tait, 1970;Creasy, Crolla and Alberman, 1976) which included abortuses expelled at the end of the second trimester. In the larger of these studies the sex-ratio was 126.3, but when abortions after the nineteenth week were excluded this fell to 114.8.…”

Section: The Primary Sex Ratio Of Manmentioning

confidence: 90%

Letters to the editor

Bernstein-Wiener

James

Creasy

1977

Annals of Human Biology

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“…A complete trisomy for the chromosome 14 has been detected in spontaneous abortuses (K@i et aI., 1972;Creasy et al, 1976), but never in newborns. However, trisomy 14 in a mosaic form with normal diploid cells and partial trisomy 14 have occasionally been reported in liveborn individuals (cf., Miller et al, 1979;Johnson et aL, 1979).…”

Section: Introductionmentioning

confidence: 99%