Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Apr;48(4):682–686.

The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

A Mathur 1, L Stekol 1, D Schatz 1, N K MacLaren 1, M L Scott 1, B Lippe 1
PMCID: PMC1682964  PMID: 1673045

Abstract

We have used X- and Y-linked RFLPs to determine the origin of the single X chromosome in 25 live-born individuals with Turner syndrome. We determined that 18 individuals retained a maternal X (Xm) and that seven retained the paternal X (Xp). No occult mosaicism was detected. We found no differences in either maternal or paternal ages for the two groups. The ratio of maternal X to paternal X is just over 2:1, which is consistent with the expected proportion of meiotic or mitotic products, with equal loss at each step, given the nonviability of 45,Y. Six phenotypic or physiologic characteristics were assessed: (1) birth weight, (2) height percentile at time of testing, (3) presence of a webbed neck, (4) cardiovascular abnormalities, (5) renal abnormalities, and (6) thyroid autoimmunity. There were no significant differences in birth weights or heights between the girls who retained the maternal X or the paternal X. In addition, no differences between the groups could be appreciated in the incidence of the physical, anatomic, or physiologic parameters assessed.

Full text

PDF
683

Images in this article

683Figure 1
on p.683

Selected References

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

  1. Burns J. L., Hall J. G., Powers E., Callis J. B., Hoehn H. No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45, XO Turner syndrome. Clin Genet. 1979 Jan;15(1):22–28. doi: 10.1111/j.1399-0004.1979.tb02025.x. [DOI] [PubMed] [Google Scholar]
  2. Carothers A. D., Frackiewicz A., De Mey R., Collyer S., Polani P. E., Osztovics M., Horváth K., Papp Z., May H. M., Ferguson-Smith M. A. A collaborative study of the aetiology of Turner syndrome. Ann Hum Genet. 1980 May;43(4):355–368. doi: 10.1111/j.1469-1809.1980.tb01570.x. [DOI] [PubMed] [Google Scholar]
  3. Germain E. L., Plotnick L. P. Age-related anti-thyroid antibodies and thyroid abnormalities in Turner syndrome. Acta Paediatr Scand. 1986 Sep;75(5):750–755. doi: 10.1111/j.1651-2227.1986.tb10285.x. [DOI] [PubMed] [Google Scholar]
  4. Hall J. G. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet. 1988 Oct;43(4):355–363. [PMC free article] [PubMed] [Google Scholar]
  5. 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]
  6. Hassold T., Kumlin E., Takaesu N., Leppert M. Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms. Am J Hum Genet. 1985 Sep;37(5):965–972. [PMC free article] [PubMed] [Google Scholar]
  7. Hook E. B., Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet. 1983;64(1):24–27. doi: 10.1007/BF00289473. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Kajii T., Ohama K. Inverse maternal age effect in monosomy X. Hum Genet. 1979 Oct 1;51(2):147–151. doi: 10.1007/BF00287168. [DOI] [PubMed] [Google Scholar]
  10. Kidd K. K., Bowcock A. M., Schmidtke J., Track R. K., Ricciuti F., Hutchings G., Bale A., Pearson P., Willard H. F., Gelernter J. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989;51(1-4):622–947. doi: 10.1159/000132810. [DOI] [PubMed] [Google Scholar]
  11. Lyon A. J., Preece M. A., Grant D. B. Growth curve for girls with Turner syndrome. Arch Dis Child. 1985 Oct;60(10):932–935. doi: 10.1136/adc.60.10.932. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. 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]
  13. Pai G. S., Leach D. C., Weiss L., Wolf C., Van Dyke D. L. Thyroid abnormalities in 20 children with Turner syndrome. J Pediatr. 1977 Aug;91(2):267–269. doi: 10.1016/s0022-3476(77)80827-5. [DOI] [PubMed] [Google Scholar]
  14. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  15. Riley W. J., Maclaren N. K., Lezotte D. C., Spillar R. P., Rosenbloom A. L. Thyroid autoimmunity in insulin-dependent diabetes mellitus: the case for routine screening. J Pediatr. 1981 Sep;99(3):350–354. doi: 10.1016/s0022-3476(81)80316-2. [DOI] [PubMed] [Google Scholar]
  16. 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]
  17. Stagnaro-Green A., Roman S. H., Cobin R. H., el-Harazy E., Alvarez-Marfany M., Davies T. F. Detection of at-risk pregnancy by means of highly sensitive assays for thyroid autoantibodies. JAMA. 1990 Sep 19;264(11):1422–1425. [PubMed] [Google Scholar]
  18. Torfs C. P., van den Berg B. J., Oechsli F. W., Christianson R. E. Thyroid antibodies as a risk factor for Down syndrome and other trisomies. Am J Hum Genet. 1990 Oct;47(4):727–734. [PMC free article] [PubMed] [Google Scholar]
  19. Vadheim C. M., Rotter J. I., Maclaren N. K., Riley W. J., Anderson C. E. Preferential transmission of diabetic alleles within the HLA gene complex. N Engl J Med. 1986 Nov 20;315(21):1314–1318. doi: 10.1056/NEJM198611203152103. [DOI] [PubMed] [Google Scholar]
  20. Warburton D., Kline J., Stein Z., Susser M. Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet. 1980 Jan 26;1(8161):167–169. doi: 10.1016/s0140-6736(80)90658-3. [DOI] [PubMed] [Google Scholar]
  21. van der Putte S. C. Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich. Virchows Arch A Pathol Anat Histol. 1977 Nov 25;376(3):233–246. doi: 10.1007/BF00432399. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES