{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:37:00Z","timestamp":1760747820998,"version":"build-2065373602"},"reference-count":74,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1971,6]]},"DOI":"10.1136\/jmg.8.2.164","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:49:07Z","timestamp":1226328547000},"page":"164-174","source":"Crossref","is-referenced-by-count":69,"title":["Chromosome studies in selected spontaneous abortions. Polyploidy in man."],"prefix":"10.1136","volume":"8","author":[{"given":"D H","family":"Carr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1971,6,1]]},"reference":[{"key":"ref_1","article-title":"Makino","author":"Waxman, Arakaki, and Smith, 1967; Schlegel et al, 1966; Bowen and and Kerr, 1966; Stenchever, Hempel, and Macintyre, Makino, et al,","year":"1966","unstructured":"Penrose and Delhanty, 1961; Delhanty, Ellis, and Rowley, 1961; Szulman, 1965; Singh and and Metcalfe, 1966; Inhorn, 1967; Waxman, Arakaki, and Smith, 1967; Schlegel et al, 1966; Bowen and and Kerr, 1966; Stenchever, Hempel, and Macintyre, 1967; Makino, et al, 1964; Makino et al, 1967; Atkin","journal-title":"et al"},{"key":"ref_2","article-title":"Edwards et a'","volume-title":"Shephard et al, 1968; Stonova and Selezniova","author":"Smith, McNab, and Ferguson-Smith,","year":"1967","unstructured":"Carr, 1967; Thiede Lee, 1969; Rashad and Klinger, 1962; Beischer and Fortune, 1968; Boue, Boue, and Lazar, 1967; Edwards et a', 1967; Larson, 1969; Shephard et al, 1968; Stonova and Selezniova, 1968; Wieczorek, 1968; Smith, McNab, and Ferguson-Smith, 1969; Mikamo, 1970."},{"key":"ref_3","article-title":"tors have now selected specimens for study and have It has been suggested that triploid specimens collected 267 chromosomally abnormal abortuses. tend to manifest as 'missed abortions'","volume-title":"were triploid but they have 1965). Unfortunately, this term is used loosely in not yet been described in detail (Boue and Boue, gynaecology and there is no strict definition of","year":"(19-1","unstructured":"tors have now selected specimens for study and have It has been suggested that triploid specimens collected 267 chromosomally abnormal abortuses. tend to manifest as 'missed abortions' (Szulman, Of these, 51 (19-1 %) were triploid but they have 1965). Unfortunately, this term is used loosely in not yet been described in detail (Boue and Boue, gynaecology and there is no strict definition of"},{"key":"ref_4","article-title":"ranged in age from about 30 to 63 days of develop-Judging by the literature, as well as our own mental age. There were 11 triploid embryos with a experience, tetraploidy is one fifth to one quarter as focal, external anomaly. Six of them had meningocommon as triploidy (Boue and Boue, 1970; Carr, myelocele, one had an encephalocele, and 4 had","volume-title":"specimens among facial anomalies including cleft lip and palate","year":"1970","unstructured":"ranged in age from about 30 to 63 days of develop-Judging by the literature, as well as our own mental age. There were 11 triploid embryos with a experience, tetraploidy is one fifth to one quarter as focal, external anomaly. Six of them had meningocommon as triploidy (Boue and Boue, 1970; Carr, myelocele, one had an encephalocele, and 4 had 1970b). There were 7 tetraploid specimens among facial anomalies including cleft lip and palate."},{"key":"ref_5","article-title":"conceptuses with normal chromosomes","volume-title":"However, the gestational ages of the 30 triploid specimens described in this paper is almost identical to that found in 144 specimens with normal chromosomes, which was 106-7","year":"1965","unstructured":"conceptuses with normal chromosomes (Carr, 1965). However, the gestational ages of the 30 triploid specimens described in this paper is almost identical to that found in 144 specimens with normal chromosomes, which was 106-7 (\u00b1 8.97 days)."},{"key":"ref_6","article-title":"In spite of the severe effects of polyploidy on human development, living triploid infants have been born. Knowing the variation in all biological phenomena, it is reasonable to suppose that pure tetraploid embryos, perhaps even a living individual, will eventually be described. A mosaic tetraploid\/ There appears to be a definite relationship bediploid infant has already been reported (Kohn tween the post-oral contraceptive state and the et al, 1967) and there have been several such extendency to triploid conceptions in man. This may amples of mosaic tetraploid abortuses, some with also apply to tetraploidy but there were too few fetuses","volume-title":"Valenti, specimens to be significant. Possible mechanisms","year":"1967","unstructured":"In spite of the severe effects of polyploidy on human development, living triploid infants have been born. Knowing the variation in all biological phenomena, it is reasonable to suppose that pure tetraploid embryos, perhaps even a living individual, will eventually be described. A mosaic tetraploid\/ There appears to be a definite relationship bediploid infant has already been reported (Kohn tween the post-oral contraceptive state and the et al, 1967) and there have been several such extendency to triploid conceptions in man. This may amples of mosaic tetraploid abortuses, some with also apply to tetraploidy but there were too few fetuses (Inhorn, 1967; Suzumori, 1968; Valenti, specimens to be significant. Possible mechanisms"},{"year":"1969","author":"Citoler, Pera; Schwarzacher","unstructured":"; Citoler, Pera, and Schwarzacher, 1969).","key":"ref_7"},{"year":"1970","unstructured":"have been discussed elsewhere (Carr, 1970c).","article-title":"have been discussed elsewhere","key":"ref_8"},{"key":"ref_9","article-title":"Man seems similar to other mammals in his There is a known increase in triploid conceptuses reaction to polyploidy. In the mouse, triploid from rabbits and mice if fertilization is delayed for blastocysts were about 10 times as frequent as some hours (Shaver and","year":"1969","unstructured":"Man seems similar to other mammals in his There is a known increase in triploid conceptuses reaction to polyploidy. In the mouse, triploid from rabbits and mice if fertilization is delayed for blastocysts were about 10 times as frequent as some hours (Shaver and Carr, 1969; Vickers, 1969).","journal-title":"Carr"},{"key":"ref_10","article-title":"tetraploid ones in 3j-day-blastocysts. It also ap-The importance of this factor in man would be difpears that tetraploid embryos failed to progress to ficult to substantiate. There is suggestive evidence later stages while triploid embryos were found at 91 that the fertilization of ageing ova greatly increases days (almost mid-term). Furthermore, these emthe risk of anomalous development in man (Hertig, bryos, though small, were developing normally 1967) but the possible relationship between","year":"1957","unstructured":"tetraploid ones in 3j-day-blastocysts. It also ap-The importance of this factor in man would be difpears that tetraploid embryos failed to progress to ficult to substantiate. There is suggestive evidence later stages while triploid embryos were found at 91 that the fertilization of ageing ova greatly increases days (almost mid-term). Furthermore, these emthe risk of anomalous development in man (Hertig, bryos, though small, were developing normally 1967) but the possible relationship between this and (Beatty, 1957). Bomsel-Helmreich (1965) found polyploidy cannot be assessed with certainty.","journal-title":"Bomsel-Helmreich; found polyploidy cannot be assessed with certainty"},{"key":"ref_11","article-title":"triploid rabbit embryos at mid-term (15 days). On the other hand, Ekins and Shaver","volume-title":"also working with rabbits, found a significant reduction in tri","year":"1969","unstructured":"triploid rabbit embryos at mid-term (15 days). On the other hand, Ekins and Shaver (1969) also working with rabbits, found a significant reduction in tri-"},{"author":"Nine","unstructured":"almost 100% of the conceptuses were triploid. complements of the other 5 were unknown. Nine","article-title":"almost 100% of the conceptuses were triploid. complements of the other 5 were unknown","key":"ref_12"},{"unstructured":"There is a known relationship in man between Eighty-five per cent of the triploid and hypertrisomy and increased maternal age (Penrose, 1961). triploid embryos showed hydatidiform degenera-","article-title":"There is a known relationship in man between Eighty-five per cent of the triploid and hypertrisomy and increased maternal age (Penrose, 1961). triploid embryos showed hydatidiform degenera-","key":"ref_13"},{"key":"ref_14","article-title":"The mean maternal age for 18 women None of the 7 tetraploid specimens contained an aborting tetraploid embryos, already referred to, embryo and the mean gestational age was 4 weeks was 25-7 years. Thus, there is no evidence of any less than that for the triploid specimens. The inmaternal age effect in polyploidy. This agrees creased lethality of tetraploidy over triploidy in man with the assessment of others","volume-title":"We had is not clear","author":"respectively","year":"1970","unstructured":"respectively. The mean maternal age for 18 women None of the 7 tetraploid specimens contained an aborting tetraploid embryos, already referred to, embryo and the mean gestational age was 4 weeks was 25-7 years. Thus, there is no evidence of any less than that for the triploid specimens. The inmaternal age effect in polyploidy. This agrees creased lethality of tetraploidy over triploidy in man with the assessment of others (Boue, Boue, and is similar to that found in the mouse but the reason Lazar, 1969; Arakaki and Waxman, 1970). We had is not clear."},{"year":"1970","unstructured":"hypertriploid embryos and the mean maternal age was 40 7 years. This seems to reflect an ageing effect associated with the presence of one extra chromosome in addition to the triploid complement. However, the numbers are very small and the only other reported example of a hypertriploid abortus came from a woman of 25 years (Mikamo, 1970).","article-title":"hypertriploid embryos and the mean maternal age was 40 7 years. This seems to reflect an ageing effect associated with the presence of one extra chromosome in addition to the triploid complement. However, the numbers are very small and the only other reported example of a hypertriploid abortus came from a woman of 25 years","key":"ref_15"},{"key":"ref_16","first-page":"264","article-title":"Effect of gestational and maternal age in early abortion","volume":"35","author":"Arakaki, D.T.; Waxman, S.H.","year":"1970","unstructured":"Arakaki, D. T. and Waxman, S. H. (1970). Effect of gestational and maternal age in early abortion. 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A. and Fortune, D. W. (1968). Significance of chromatin patterns in cases of hydatidiform mole with an associated fetus. American Journal of Obstetrics and Gynecology, 100, 276-282.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_20","first-page":"70","article-title":"Triploidie chromosomique chez un nouveaune polymalforme","volume":"10","author":"Bemard, R.; Stahl, A.; Coignet, J.; Giraud, F.; Hartung, M.; Brusquet, Y.; Passeron, P.","year":"1967","unstructured":"Bemard, R., Stahl, A., Coignet, J., Giraud, F., Hartung, M., Brusquet, Y., and Passeron, P. (1967). Triploidie chromosomique chez un nouveaune polymalforme. Annales de Genetique, 10, 70-74.","journal-title":"Annales de Genetique"},{"key":"ref_21","first-page":"246267","article-title":"Heteroploidy and embryonic death. In Preimplantation Stages of Pregnancy: Ciba Foundation Symposium","author":"Bomsel-Helmreich, 0","year":"1965","unstructured":"Bomsel-Helmreich, 0. (1965). Heteroploidy and embryonic death. In Preimplantation Stages of Pregnancy: Ciba Foundation Symposium, ed. G. E. W. Wolstenholme and M. O'Connor, pp. 246267. Churchill, London."},{"key":"ref_22","first-page":"635","article-title":"Les aberrations chromosomiques dans les avortements spontanes humains","volume":"78","author":"Boue, J.G.; Boue, A.","year":"1970","unstructured":"Boue, J. G. and Boue, A. (1970). Les aberrations chromosomiques dans les avortements spontanes humains. Presse Medicale, 78, 635-641.","journal-title":"Presse Medicale"},{"key":"ref_23","first-page":"179","article-title":"Les aberrations chromosomiques dans les avortements","volume":"10","author":"Boue, J.G.; Boue, A.; Lazar, P.","year":"1967","unstructured":"Boue, J. G., Boue, A., and Lazar, P. (1967). Les aberrations chromosomiques dans les avortements. 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Ronald Press, New York."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/S0140-6736(61)92794-5","article-title":"Triploid cells in a human embryo","volume":"1","author":"Delhanty, J.D.A.; Ellis, J.R.; Rowley, P.T.","year":"1961","unstructured":"Delhanty, J. D. A., Ellis, J. R., and Rowley, P. T. (1961). Triploid cells in a human embryo. Lancet, 1, 1286.","journal-title":"Lancet"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000129932","article-title":"Three cases of triploidy in man","volume":"6","author":"Edwards, J.H.; Yuncken, C.; Rushton, D.I.; Richards, S.; Mittowoch, U.","year":"1967","unstructured":"Edwards, J. H., Yuncken, C., Rushton, D. I., Richards, S., and Mittowoch, U. (1967). Three cases of triploidy in man. 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