Monozygotic twins discordant for Ullrich-Turner syndrome

P. B. Kaplowitz, Joann N Bodurtha, J. Brown, J. E. Spence

Research output: Contribution to journalArticle

Abstract

We describe 9-year-old twin girls who were thought to be monozygotic but who differed greatly in physical appearance and growth pattern. One twin had Ullrich-Turner syndrome (UTS),45,X/46,XX mosaicism in peripheral blood, and only 45,X cells in skin fibroblasts. The phenotypically normal twin also had 45,X/46,XX mosaicism in blood but only 46,XX cells in cultured fibroblasts. Analysis of DNA marker patterns in blood lymphocytes and in skin fibroblasts confirmed monozygosity with a probability of 99.97%. This case is compared with other reported cases of discordance for UTS in twins. It is concluded that essentially all of the differences between the two twins can be explained by loss of an X chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event. The presence of mosaicism in the peripheral blood of both twins is presumably due to anastomoses between the placentae resulting in a mixture of the two cell populations in the hematopoietic tissue.

Original languageEnglish (US)
Pages (from-to)78-82
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume41
Issue number1
StatePublished - 1991
Externally publishedYes

Fingerprint

Turner Syndrome
Monozygotic Twins
Mosaicism
Fibroblasts
Skin
X Chromosome
Cell Lineage
Genetic Markers
Placenta
Embryonic Development
Cultured Cells
Lymphocytes
Growth
Population

Keywords

  • anastomoses
  • Discordant monozygotic twins
  • mosaicism

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Monozygotic twins discordant for Ullrich-Turner syndrome. / Kaplowitz, P. B.; Bodurtha, Joann N; Brown, J.; Spence, J. E.

In: American Journal of Medical Genetics, Vol. 41, No. 1, 1991, p. 78-82.

Research output: Contribution to journalArticle

Kaplowitz, PB, Bodurtha, JN, Brown, J & Spence, JE 1991, 'Monozygotic twins discordant for Ullrich-Turner syndrome', American Journal of Medical Genetics, vol. 41, no. 1, pp. 78-82.
Kaplowitz, P. B. ; Bodurtha, Joann N ; Brown, J. ; Spence, J. E. / Monozygotic twins discordant for Ullrich-Turner syndrome. In: American Journal of Medical Genetics. 1991 ; Vol. 41, No. 1. pp. 78-82.
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