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. 1973 Jun;10(2):135–141. doi: 10.1136/jmg.10.2.135

Three Further Cases of Triploidy in Man Surviving to Birth

S Walker *, J Andrews , N M Gregson , W Gault ††
PMCID: PMC1013003  PMID: 4541379

Abstract

Three triploid infants, two male (69,XXY) and one female (69,XXX) all of which survived beyond 35 weeks' gestation are described. One was stillborn due to a difficult delivery, the other two survived for a few hours only. Two were of relatively low birth weight, the other was normal. There was no evidence of mosaicism in the tissue examined.

In keeping with previously reported triploid infants they showed a variety of abnormalities. From a total of 13 cases now reported the more frequent associated anomalies are low set ears, coloboma of the iris, syndactyly of the hands, a single palmar crease, abnormal male genitalia in XXY individuals, polycystic kidney, and congenital heart defect. The most common anomaly, however, is hydatidiform degeneration of a large placenta.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beischer N. A., Fortune D. W., Fitzgerald M. G. Hydatidiform Mole and Coexistent Foetus, both with Triploid Chromosome Constitution. Br Med J. 1967 Aug 19;3(5563):476–478. doi: 10.1136/bmj.3.5563.476. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bernard R., Stahl A., Coignet J., Giraud F., Hartung M., Brusquet Y., Passeron P. Triploïdie chromosomique chez un nouveau-né polymalformé. Ann Genet. 1967 Jun;10(2):70–74. [PubMed] [Google Scholar]
  3. Butler L. J., Chantler C., France N. E., Keith C. G. A liveborn infant with complete triploidy (69,XXX). J Med Genet. 1969 Dec;6(4):413–421. doi: 10.1136/jmg.6.4.413. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Carr D. H. Chromosome studies in selected spontaneous abortions. 1. Conception after oral contraceptives. Can Med Assoc J. 1970 Aug 15;103(4):343–348. [PMC free article] [PubMed] [Google Scholar]
  5. Carr D. H. Chromosome studies in selected spontaneous abortions. Polyploidy in man. J Med Genet. 1971 Jun;8(2):164–174. doi: 10.1136/jmg.8.2.164. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Carr D. H. Cytogenetics and the pathology of hydatidiform degeneration. Obstet Gynecol. 1969 Mar;33(3):333–342. [PubMed] [Google Scholar]
  7. Edwards J. H., Yuncken C., Rushton D. I., Richards S., Mittwoch U. Three cases of triploidy in man. Cytogenetics. 1967;6(2):81–104. doi: 10.1159/000129932. [DOI] [PubMed] [Google Scholar]
  8. Hobson B. M. Pregnancy diagnosis using the Pregnosticon haemagglutination inhibition test. J Obstet Gynaecol Br Commonw. 1968 Jul;75(7):718–723. doi: 10.1111/j.1471-0528.1968.tb01549.x. [DOI] [PubMed] [Google Scholar]
  9. JOHN A. H., DUNCAN A. S. THE MATERNAL SYNDROME ASSOCIATED WITH HYDROPS FOETALIS. J Obstet Gynaecol Br Commonw. 1964 Feb;71:61–65. doi: 10.1111/j.1471-0528.1964.tb04243.x. [DOI] [PubMed] [Google Scholar]
  10. Keutel J., Dollmann A., Münster W. Triploidie (69,XXY) bei einem lebend geborenen Kind. Z Kinderheilkd. 1970;109(2):104–117. [PubMed] [Google Scholar]
  11. Papiernik-Berkhauer E. Enfant triploïde à terme et thérapeutique hormonale. Bull Fed Soc Gynecol Obstet Lang Fr. 1968 Jun-Aug;20(3):248–249. [PubMed] [Google Scholar]
  12. Paterson W. G., Hobson B. M., Smart G. E., Bain A. D. Two cases of hydatidiform degeneration of the placenta with fetal abnormality and triploid chromosome constitution. J Obstet Gynaecol Br Commonw. 1971 Feb;78(2):136–142. doi: 10.1111/j.1471-0528.1971.tb00247.x. [DOI] [PubMed] [Google Scholar]
  13. Schindler A. M., Mikamo K. Triploidy in man. Report of a case and a discussion on etiology. Cytogenetics. 1970;9(2):116–130. [PubMed] [Google Scholar]
  14. Schmickel R. D., Silverman E. M., Floyd A. D., Payne F. E., Pooley J. M., Beck M. L. A live-born infant with 69 chromosomes. J Pediatr. 1971 Jul;79(1):97–103. doi: 10.1016/s0022-3476(71)80065-3. [DOI] [PubMed] [Google Scholar]

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