PEDIATRICS Vol. 71 No. 3 March 1983, pp. 413-417
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45,X/46,XX Mosaicism in Discordant Monozygotic Twins

Irene A. Uchida PhD1, Derek J. deSa MB, D Phil, MRC Path1, and Donald T. Whelan MD, FRC (C)1

1 From the Departments of Pediatrics and Pathology, McMaster University Health Sciences Centre, Hamilton, Ontario, Canada

Monozygotic twins discordant for Turner's syndrome were both mosaic for 45,X/46,XX in the blood with the same low frequency of 2% to 3% 45,X cells. However, the fibroblasts of the abnormal girl were all uniformly 45,X whereas her normal twin had only 46,XX cells. Monozygosity was confirmed by genetic markers, chromosome variants, and a single monochorionic placenta with a shared vascular circulation. The mechanism by which this disparate pair developed from a single zygote is suggested.

Key Words: mosaicism • monozygotic twins • Turner's syndrome

Submitted on April 12, 1982
Accepted on June 4, 1982