A live-born infant with 69 chromosomes

Schmickel, Roy D.; Silverman, Eugene M.; Floyd, Alton D.; Payne, Francis E.; Pooley, Janet M.; Beck, Malcolm L.

doi:10.1016/s0022-3476(71)80065-3

Cited by 36 publications

(13 citation statements)

References 15 publications

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“…They included five triploids of paternal origin (Butler et al, 1969;U chida and Lin, 1972;McConnell and Carr, 1975;Hors and D ausset, quoted by Bou£ and Boue, 1974), with one apparently resulting from dispermy (Schmickel et al, 1971). There was one case of mat 1 origin (N iebuhr et al, 1972).…”

Section: Discussionmentioning

confidence: 99%

Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

Kajii¹,

Niikawa²

1977

Cytogenet Genome Res

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Sixteen triploid and one tetraploid human abortuses were studied for the origin of polyploidy using a sequential Q- and R-banding technique. Ten triploid abortuses provided informative data: one originated in the maternal first meiotic division; five apparently resulted from dispermy; two derived from an error during either the paternal second meiotic division or the first mitotic division; and the last two were of paternal origin. The results indicate that paternal factors, especially dispermy, are the predominant sources of triploidy in man. The tetraploid abortus showed duplication of both the maternal and paternal haploid sets, suggesting normal division of chromosomes and suppression of cytoplasmic cleavage at the first mitotic division. No correlation was found between the origin of polyploidy and the phenotype of the triploid abortuses, nor between the origin of polyploidy and the maternal use of oral contraceptives.

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Section: Discussionmentioning

confidence: 99%

Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

Kajii¹,

Niikawa²

1977

Cytogenet Genome Res

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“…Triploidy (69 chromosomes) occurs in about 12 % of human first-trimester spontaneous abortuses [Boue et al, 19751. Triploidy is rare in term liveborn humans, but a few affected infants have been reported [Butler et al, 1969;Schmickel et al, 1971;Finley et al, 1972;Simpson et al, 1972;Zergollern et al, 1972;Walker et al, 1973;de Grouch et al, 1974;Henriksson et al, 1974, Dewald et al, 1975; A1 Saadi et al, 1976;Cassidy et al, 1977;Fryns et al, 1980;Fraikor et al, 1980;Faix et al, 1984;Maraschio et al, 19841. In contrast, diploid-triploid (2n/3n) mosaicism is a rarer and less severe condition in which infants can survive beyond the neonatal period [Tharape1 et a1 , 19831.…”

Section: Introductionmentioning

confidence: 99%

Diploid‐triploid mosaicism: Report of necropsy findings

et al. 1986

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“…The already published eases of pure triploidy in liveborn infants indicate that a small number of very typical malformations occur in such patients and that it is possible to suspect this condition on clinical grounds alone [13]. The most important signs are : syndactyly of fingers and toes, eye defects, irregular development of the central nervous system, typical dermatoglyphs and a large placenta.…”

Section: Discussionmentioning

confidence: 99%

“…In some triploidy eases the size of the nuclei was measured as well as the quantity of DNA in various organs [4,13]. It was found that the nuclei were at least by 50% bigger, while the mass of DNA was significantly bigger in these nuclei.…”

mentioning

confidence: 99%

“…It can be supposed that factors which regulate the size of a mature organism are not influenced by the size of its cells, namely by the gene dosage. Yet, in patients with mixoploidy with triploidy-diploidy, we come upon the phenomenon of hemihypertrophy, which is explained by a more radical disbalanee, in conjunction with the presence of various cell clones [13].…”

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confidence: 99%

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A liveborn infant with triploidy (69, XXX)

et al. 1972

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Abstract. In a liveborn infant with 69 chromosomes some symptoms have been found which were also seen among the cases of triploidy reported before. The characteristic face, syndactyly, coloboma, abnormal neurological and sexual development, and increased number of digital whorls are the most frequent findings. Ill our case we found arhinencephaly, bilateral mierophthalmy with colobomata iridis, eheilognathopalatoschisis, syndactyly of the III--1V finger, bilateral simian crease, mola hydatiformis of placenta.There was strong Rh immunization of the mother who was rh negative, possibly due to an increased erythrocyte antigen strength, because of triple gene dosage of the child.

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A live-born infant with 69 chromosomes

Cited by 36 publications

References 15 publications

Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

Diploid‐triploid mosaicism: Report of necropsy findings

A liveborn infant with triploidy (69, XXX)

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