Chromosome studies in selected spontaneous abortions. Polyploidy in man.

Carr, David

doi:10.1136/jmg.8.2.164

Cited by 88 publications

(19 citation statements)

References 30 publications

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“…The 0.93% incidence of triploidy is similar to the 1.2% reported by Donahue (1972«) for the mouse and also the 1% incidence estimated in man (Carr, 1971). It is.…”

Section: Discussionsupporting

confidence: 74%

Spontaneous heteroploidy in one-cell mouse embryos

Martin‐DeLeon¹,

Boice²

1983

Cytogenet Genome Res

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First cleavage divisions were analyzed, after chromosome banding, in 321 zygotes recovered from superovulated, outbred ICR mice 33–35 h after injection of human chorionic gonadotropin. With 72.1% of all zygotes at metaphase and late prophase analyzed, there was 87% diploidy, 3.6% trisomy, 2.5% monosomy, 0.4% structural rearrangement, and 0.93% triploidy. Aneuploid zygotes in which there were 37 or 38 chromosomes accounted for 6.5% of the population with both haploid complements analyzable. In 45 diploid zygotes in which only one complement was analyzable, there was 93.4% haploidy, 2.2% disomy, and 4.4% hypoploidy. The chromosome most often involved in aneuploidy was the 19. The parental origin of the chromosome anomalies was determined on the basis of differential condensation of the chromosomes. The source of trisomy was shown to be the male in three and the female in five of the eight cases determined. This indicates a paternal contribution to trisomy and a female nondisjunction frequency of 1.5% (five of 321). For monosomy where the origin was identified in five of the cases, the male complement was implicated in three zygotes. The single break was seen in a sperm-derived chromosome. Two of the three triploids were dispermic and one was digynic. The outbred Swiss mouse might be a useful model for studying factors responsible for the induction of cytogenetic anomalies in early development of mammals.

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“…The 0.93% incidence of triploidy is similar to the 1.2% reported by Donahue (1972«) for the mouse and also the 1% incidence estimated in man (Carr, 1971). It is.…”

Section: Discussionsupporting

confidence: 74%

Spontaneous heteroploidy in one-cell mouse embryos

Martin‐DeLeon¹,

Boice²

1983

Cytogenet Genome Res

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“…Trisomies appear to be factors and do depend on maternal age. In more recent papers, Bowen and Lee (1969), suspect triploidy to be implicated, while Carr (1971) does not. Doepfner (1962) and Niendorf (1964) have suggested that polyspermy is a factor.…”

mentioning

confidence: 94%

Sequential aspects of spontaneous abortion: Maternal age, parity, and pregnancy compensation artifact

Naylor

1974

Social Biology

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“…The average maternal age was approximately 24 years; average paternal age was 27 years. Carr [1970] observed that the frequency of polyploidy in products of spontaneous abortion was markedly increased in those pregnancies occurring within 6 months after cessation of oral contraceptives. It is interesting to note that in two of three of our cases the mother was on oral contraceptives at the time of conception and during the first weeks of pregnancy.…”

Section: Discussionmentioning

confidence: 95%

Tetraploidy: A report of three live‐born infants

et al. 1984

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We present three live-born infants with tetraploidy and compare them with two previously reported live-born infants with the same genetic defect. Common anomalies noted included microcephaly; a prominent, narrow forehead; microphthalmia/anophthalmia; cleft palate; orthopedic anomalies; genital ambiguity; and abnormalities of the central nervous system, including pituitary hypoplasia. Together these constitute a rather characteristic phenotype. An error in cytoplasmic cleavage is theorized to be a mechanism for the chromosome anomaly and is supported by the presence of parental polymorphisms in one of our cases; however, the presence of a small percentage of tetraploid cells in the leukocytes and skin fibroblasts of this patient's mother does not exclude maternal mosaicism as the basis for polyploidy in certain instances.

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Chromosome studies in selected spontaneous abortions. Polyploidy in man.

Cited by 88 publications

References 30 publications

Spontaneous heteroploidy in one-cell mouse embryos

Spontaneous heteroploidy in one-cell mouse embryos

Sequential aspects of spontaneous abortion: Maternal age, parity, and pregnancy compensation artifact

Tetraploidy: A report of three live‐born infants

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