Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1976 Oct;13(5):371–380. doi: 10.1136/jmg.13.5.371

Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.

C M Gosden, M O Wright, W G Paterson, K A Grant
PMCID: PMC1013443  PMID: 1034015

Abstract

A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.

Full text

PDF
371

Images in this article

373Image
on p.373
374Image
on p.374
375Image
on p.375
375Image
on p.375
376Image
on p.376
377Image
on p.377
377Image
on p.377

Selected References

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

  1. Bard J., Wright M. O. The membrane potentials of fibroblasts in different environments. J Cell Physiol. 1974 Aug;84(1):141–145. doi: 10.1002/jcp.1040840116. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. 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]
  4. 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]
  5. Carter C. O. The inheritance of common congenital malformations. Prog Med Genet. 1965;4:59–84. [PubMed] [Google Scholar]
  6. DE HENDRICKSE J. P., WILLIS A. J., EVANS K. T. ACUTE DYSPNOEA WITH TROPHOBLASTIC TUMOURS. J Obstet Gynaecol Br Commonw. 1965 Jun;72:376–383. doi: 10.1111/j.1471-0528.1965.tb01472.x. [DOI] [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. Evans H. J., Buckton K. E., Sumner A. T. Cytological mapping of human chromosomes: results obtained with quinacrine fluorescence and the acetic-saline-Giemsa techniques. Chromosoma. 1971;35(3):310–325. doi: 10.1007/BF00326281. [DOI] [PubMed] [Google Scholar]
  9. Finley W. H., Finley S. C., Green M. B., Bush S. T. Triploidy in a live-born male infant. J Pediatr. 1972 Oct;81(4):855–856. doi: 10.1016/s0022-3476(72)80119-7. [DOI] [PubMed] [Google Scholar]
  10. Halbrecht I., Komlos L., Shabtay F., Solomon M., Bök J. A. Triploidy 69, XXX in a stillborn girl. Clin Genet. 1973;4(3):210–212. doi: 10.1111/j.1399-0004.1973.tb01144.x. [DOI] [PubMed] [Google Scholar]
  11. Hungerford D. A. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol. 1965 Nov;40(6):333–338. doi: 10.3109/10520296509116440. [DOI] [PubMed] [Google Scholar]
  12. Keutel J., Dollmann A., Münster W. Triploidie (69,XXY) bei einem lebend geborenen Kind. Z Kinderheilkd. 1970;109(2):104–117. [PubMed] [Google Scholar]
  13. McClintock B. A Cytological and Genetical Study of Triploid Maize. Genetics. 1929 Mar;14(2):180–222. doi: 10.1093/genetics/14.2.180. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Moens P. B. Multiple core complexes in grasshopper spermatocytes and spermatids. J Cell Biol. 1969 Feb;40(2):542–551. doi: 10.1083/jcb.40.2.542. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Niebuhr E., Sparrevohn S., Henningsen K., Mikkelsen M. A case of liveborn triploidy (69,XXX). Acta Paediatr Scand. 1972 Mar;61(2):203–208. doi: 10.1111/j.1651-2227.1972.tb15925.x. [DOI] [PubMed] [Google Scholar]
  16. Niebuhr E. Triploidy in man. Cytogenetical and clinical aspects. Humangenetik. 1974 Feb 21;21(2):103–125. doi: 10.1007/BF00281030. [DOI] [PubMed] [Google Scholar]
  17. PENROSE L. S., DELHANTY J. D. Triploid cell cultures from a macerated foetus. Lancet. 1961 Jun 10;1(7189):1261–1262. doi: 10.1016/s0140-6736(61)92766-0. [DOI] [PubMed] [Google Scholar]
  18. 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]
  19. Prats J., Sarret E., Moragas A., Martin C. Triploid live full-term infant. Helv Paediatr Acta. 1971 Jun;26(2):164–172. [PubMed] [Google Scholar]
  20. SCOTT J. S. Pregnancy toxaemia associated with hydrops foetalis, hydatidiform mole and hydramnios. J Obstet Gynaecol Br Emp. 1958 Oct;65(5):689–701. doi: 10.1111/j.1471-0528.1958.tb08858.x. [DOI] [PubMed] [Google Scholar]
  21. 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]
  22. 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]
  23. Simpson J. L., Dische R., Morillo-Cucci G., Connolly C. E. Triploidy (69,XXY) in a liveborn infant. Ann Genet. 1972 Jun;15(2):103–106. [PubMed] [Google Scholar]
  24. Sumner A. T., Evans H. J., Buckland R. A. New technique for distinguishing between human chromosomes. Nat New Biol. 1971 Jul 7;232(27):31–32. doi: 10.1038/newbio232031a0. [DOI] [PubMed] [Google Scholar]
  25. Uchida I. A., Lin C. C. Identification of triploid genome by fluorescence microscopy. Science. 1972 Apr 21;176(4032):304–305. doi: 10.1126/science.176.4032.304. [DOI] [PubMed] [Google Scholar]
  26. Walker S., Andrews J., Gregson N. M., Gault W. Three further cases of triploidy in man surviving to birth. J Med Genet. 1973 Jun;10(2):135–141. doi: 10.1136/jmg.10.2.135. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES