Monozygotic twins discordant for Ullrich-Turner syndrome

American Journal of Medical Genetics
P B KaplowitzJ E Spence

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.

References

Dec 1, 1986·Journal of Medical Genetics·J BurnD Thomas
Jul 1, 1972·Acta paediatrica Scandinavica·A M Potter, L S Taitz
May 1, 1967·The Australian & New Zealand Journal of Obstetrics & Gynaecology·N L Warren, R W Hawker
Jul 1, 1983·Analytical Biochemistry·A P Feinberg, B Vogelstein
Aug 1, 1983·American Journal of Medical Genetics·S A Al-AwadiA H Bahig
Dec 1, 1982·American Journal of Medical Genetics·E WeissI M Rosenthal
Jul 11, 1953·British Medical Journal·I DUNSFORDR R RACE
Jul 11, 1953·British Medical Journal
Nov 1, 1955·American Journal of Obstetrics and Gynecology·G W CORNER

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Citations

Mar 24, 2011·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Yaniv Erlich
Sep 3, 2004·The Journal of Pediatrics·Colm P F O'DonnellAmanda Sampson
Sep 10, 2005·American Journal of Obstetrics and Gynecology·Stephen G M CarrollPhillipa Mm Kyle
Jan 22, 1996·American Journal of Medical Genetics·G A Machin
Mar 25, 2004·American Journal of Medical Genetics. Part a·T R RohrerH G Doerr
Aug 28, 1995·American Journal of Medical Genetics·W BaileyK L Jones
May 15, 1994·American Journal of Medical Genetics·G H SperberF J Bamforth
Sep 20, 2005·Prenatal Diagnosis·Boaz Weisz, Charles H Rodeck
Feb 14, 2006·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuCatherine Yardin
Apr 16, 2005·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuFrançoise Esclaire
Jan 23, 2020·Familial Cancer·S AmicoD G Evans

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