Tetraploidy in a liveborn infant.

Golbus, Mitchell S.; Bachman, Ronald; Wiltse, S; Hall, Bertil

doi:10.1136/jmg.13.4.329

Cited by 63 publications

(31 citation statements)

References 8 publications

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“…Our patient is the 6th infant known with full tetraploidy who was liveborn [Golbus et al, 1976;Pitt et al, 1981;Scarbrough et al, 19841. Golbus et al [1976] described a patient who lived to be 1 year old.…”

Section: Discussionmentioning

confidence: 93%

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A liveborn infant with tetraploidy

Lafer

Neu

Opitz³

et al. 1988

Am. J. Med. Genet.

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Section: Discussionmentioning

confidence: 93%

“…To date, 5 liveborn infants with tetraploidy and multiple congenital anomalies with a characteristic phenotype have been described [Golbus et al, 1976;Pitt et al, 198 1 ;Scarbrough et al, 19841.…”

Section: Introductionmentioning

confidence: 97%

A liveborn infant with tetraploidy

Lafer

Neu

Opitz³

et al. 1988

Am. J. Med. Genet.

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“…They represent 1.3% of the cytogenetic anom alies observed in spontaneous abortion speci mens [2], Only 7 cases of tetraploid newborns have been published to date [3][4][5][6][7], The prognosis for these infants was very poor. All were hypotrophic, had a large neurological deficit and all but 1 died before the age of 22 months.…”

Section: Discussionmentioning

confidence: 99%

“…The same malformation may be found in other cytoge netic diseases such as trisomy 13 or 18. Alter ations in the nuclear-cytoplasmic ratio less considerable than those for tetraploid cells are sufficient to induce malformations and growth retardation through genomic expres sion disorders [3] and to lengthen the mitosis duration [9].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Tetraploidy

Sagot¹,

Nomballais

David³

et al. 1993

Fetal Diagn Ther

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A pregnancy was terminated at 24 weeks of amenorrhea when tetraploidy (92 XXXX) was diagnosed in fetal blood subsequent to ultrasonographic detection of a polymalformation syndrome. The severity of the neurological deficit in tetra-ploid infants and their death befor 2 years of age require that prenatal diagnosis by cordocentesis be performed for analysis of fetal blood in cases of equivocal and nonspecific polymalformation syndrome and justify that medically-induced termination of pregnancy is suggested in the event of intrauterine tetraploidy diagnosis.

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“…Cleavage anomalies duringearly embryogenesis can lead to the development of diploid/tetraploid mosaic embryos, and, to date, at least eight infants, both male and female, of this type havedeveloped to term. These infants invariably have multiple congenital anomalies and are severely mentally retarded (Golbus et al, 1976;Pitt et al, 1981;Veenema et al, 1982;Scarbrough et al, 1984;Shionoet al, 1988;Wilson et al. 1988).…”

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confidence: 99%

Sex-chromosome constitution of postimplantation tetraploid mouse embryos

O'Neill¹,

Speirs²,

Kaufman³

1990

Cytogenet Genome Res

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Tetraploid mouse embryos were produced at the two-cell stage by blastomere fusion induced by inactivated Sendai virus. The embryos were from chromosomally normal female mice that had been fertilised by homozygous Rb( 1.3)1 Bnr males carrying a pair of large metacentric marker chromosomes in their karyotype. These “reconstructed” one-cell tetraploid embryos were then transferred to the oviducts of pseudopregnant recipients, which were subsequently autopsied early on the 10th day of gestation. Two-cell stage embryos that did not undergo blastomere fusion after 4–5 h were transferred to a second group of recipients, which were also autopsied early on the 10th day of gestation. From a total of 153 tetraploid embryos transferred to females that subsequently became pregnant, 135 implanted. Sixty-eight implantation sites were found to contain resorptions, whereas 67 contained mostly headfold presomite-stage embryos. Four embryos possessed four to six pairs of somites. All 57 em bryos that could be analysed cytogenetically were found to be tetraploid. G-banding analysis revealed that 30 of these embryos had an XXYY and 27 an XXXX sex-chromosome constitution. The presence of two marker chromosomes in all mitotic preparations from each of these tetraploid embryos confirmed that they had all been produced by duplication of their original XY or XX diploid chromosome constitution, respectively. The XXYY:XXXX sex ratio observed was not significantly different from unity. In the control series of transfers, all of the embryos recovered were at the forelimb bud stage and had a diploid chromosome constitution. The results reported here differ from human clinical findings, in which the XXYY:XXXX sex ratio of 120 human tetraploid spontaneous abortions recovered over the last 20 years is 45:75. Possible explanations for these differences are briefly discussed.

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Tetraploidy in a liveborn infant.

Cited by 63 publications

References 8 publications

A liveborn infant with tetraploidy

A liveborn infant with tetraploidy

Prenatal Diagnosis of Tetraploidy

Sex-chromosome constitution of postimplantation tetraploid mouse embryos

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