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Molecular Human Reproduction, Vol. 5, No. 1, 52-56, January 1999
© 1999 European Society of Human Reproduction and Embryology

X-chromosome inactivation patterns do not implicate asymmetric splitting of the inner cell mass in the aetiology of twin–twin transfusion syndrome

Nicholas M. Fisk1, Catherine Howard, Mark Ware and Phillip R. Bennett

Institute of Obstetrics & Gynaecology, Imperial College School of Medicine, Queen Charlotte's & Chelsea Hospital, Goldhawk Road, London W6 OXG, UK

The aetiology of twin–twin transfusion syndrome (TTTS) is unclear. We investigated the hypothesis that monochorionic (MC) pregnancies with TTTS are associated with differences in the timing and symmetry of twinning compared to MC twin pregnancies without TTTS. DNA was extracted from the umbilical cord vessels of 26 female MC twins, 14 with and 12 without TTTS on serial antenatal ultrasound. X-inactivation patterns were determined by DNA digestion with HhaI and HpaII followed by polymerase chain reaction for a polymorphic trinucleotide repeat in the androgen receptor gene. Products were quantified by densitometry and results compared to those in peripheral blood samples of adult female controls. The median degree of non-random inactivation was similar in MC twins with TTTS, in MC twins without TTTS, and in adult controls. The percentage of individuals with skewed (>=30/70%) inactivation patterns was no different in MC twins with TTTS compared to those without TTTS, and was similar to adult controls using either enzyme technique. In conclusion we found no difference in the degree or frequency of non-random X-inactivation patterns in TTTS. X-inactivation patterns do not appear to be a useful tool for studying the symmetry of inner cell mass splitting in monochorionic twins.

inner cell mass/monochorionic twins/twin–twin transfusion syndrome/X-inactivation

1 To whom correspondence should be addressed


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T. H.J. Florin, D. Taylor, N. M. Fisk, and P. R. Bennett
Hypothesis testing by X chromosome inactivation patterns may be more informative with lineage-specific cells
Mol. Hum. Reprod., February 1, 2000; 6(2): 197 - 198.
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