Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Mar;28(3):151–155. doi: 10.1136/jmg.28.3.151

A cytogenetic and molecular study of a series of 45,X fetuses and their parents.

A Cockwell 1, M MacKenzie 1, S Youings 1, P Jacobs 1
PMCID: PMC1016795  PMID: 1675683

Abstract

The parental origin of the single X chromosome in 10 45,X fetuses was studied using DNA restriction fragment length polymorphisms. In six the single X was maternal in origin, in one it was paternal, and in one the results were consistent with a paternal origin. Therefore the parental origin of the X in 45,X fetuses that survive to the second or third trimester of pregnancy is similar to that of spontaneous abortions and live births with a 45,X constitution. The mothers of two of the fetuses were themselves found to have an abnormal sex chromosome complement, but in neither case did it appear to be related to the chromosome abnormality in the fetus.

Full text

PDF

Images in this article

152Image
on p.152
153Image
on p.153

Selected References

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

  1. Abramowicz J. S., Warsof S. L., Doyle D. L., Smith D., Levy D. L. Congenital cystic hygroma of the neck diagnosed prenatally: outcome with normal and abnormal karyotype. Prenat Diagn. 1989 May;9(5):321–327. doi: 10.1002/pd.1970090504. [DOI] [PubMed] [Google Scholar]
  2. Brandriff B., Gordon L., Ashworth L., Watchmaker G., Carrano A., Wyrobek A. Chromosomal abnormalities in human sperm: comparisons among four healthy men. Hum Genet. 1984;66(2-3):193–201. doi: 10.1007/BF00286600. [DOI] [PubMed] [Google Scholar]
  3. Canki N., Warburton D., Byrne J. Morphological characteristics of monosomy X in spontaneous abortions. Ann Genet. 1988;31(1):4–13. [PubMed] [Google Scholar]
  4. Dewhurst J. Fertility in 47,XXX and 45,X patients. J Med Genet. 1978 Apr;15(2):132–135. doi: 10.1136/jmg.15.2.132. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  6. Hassold T., Benham F., Leppert M. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet. 1988 Apr;42(4):534–541. [PMC free article] [PubMed] [Google Scholar]
  7. Jacobs P. A., Betts P. R., Cockwell A. E., Crolla J. A., Mackenzie M. J., Robinson D. O., Youings S. A. A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet. 1990 Jul;54(Pt 3):209–223. doi: 10.1111/j.1469-1809.1990.tb00379.x. [DOI] [PubMed] [Google Scholar]
  8. Krauss C. M., Turksoy R. N., Atkins L., McLaughlin C., Brown L. G., Page D. C. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med. 1987 Jul 16;317(3):125–131. doi: 10.1056/NEJM198707163170301. [DOI] [PubMed] [Google Scholar]
  9. Martin R. H., Balkan W., Burns K., Rademaker A. W., Lin C. C., Rudd N. L. The chromosome constitution of 1000 human spermatozoa. Hum Genet. 1983;63(4):305–309. doi: 10.1007/BF00274750. [DOI] [PubMed] [Google Scholar]
  10. Mattei M. G., Mattei J. F., Ayme S., Giraud F. X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet. 1982;61(4):295–309. doi: 10.1007/BF00276593. [DOI] [PubMed] [Google Scholar]
  11. May K. M., Jacobs P. A., Lee M., Ratcliffe S., Robinson A., Nielsen J., Hassold T. J. The parental origin of the extra X chromosome in 47,XXX females. Am J Hum Genet. 1990 Apr;46(4):754–761. [PMC free article] [PubMed] [Google Scholar]
  12. Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Russell L. B., Montgomery C. S. The incidence of sex-chromosome anomalies following irradiation of mouse spermatogonia with single or fractionated doses of x-rays. Mutat Res. 1974 Dec;25(3):367–376. doi: 10.1016/0027-5107(74)90065-7. [DOI] [PubMed] [Google Scholar]
  14. Sanger R., Tippett P., Gavin J., Teesdale P., Daniels G. L. Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum. J Med Genet. 1977 Jun;14(3):210–211. doi: 10.1136/jmg.14.3.210. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES