45,X/46,XX mosaicism in discordant monozygotic twins

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 g...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1983-03, Vol.71 (3), p.413-417
Main Authors: Uchida, I A, deSa, D J, Whelan, D T
Format: Article
Language:English
Subjects:
Dermatoglyphics
Diseases in Twins
Female
Fibroblasts - ultrastructure
Genetic Markers
Humans
Infant, Newborn
Karyotyping
Lymphocytes - ultrastructure
Mosaicism
Pregnancy
Turner Syndrome - genetics
Twins, Monozygotic
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Summary: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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.71.3.413