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Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0).

Journal of Medical GeneticsPublished 1 June 1981Open access
J L Watt, D A Couzin, A W Johnston, V. Jandial, Elizabeth Gray
Citations14
SJR quartileQ1
SJR score1.62
SNIP1.40
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TL;DR

A case of Turner's syndrome, detected antenatally and complicated by the finding of trisomy 20 mosaicism in 50% of cells from each of two amniotic fluid cultures, is described.

Abstract

A case of Turner's syndrome, detected antenatally and complicated by the finding of trisomy 20 mosaicism in 50% of cells from each of two amniotic fluid cultures, is described. Cultures from seven fetal tissues in the subsequent abortus showed a predominance of 45,X cells, but nevertheless suggested the existence of a very low level of trisomy 20 mosaicism in three fetal tissues. The diagnostic dilemma in interpreting trisomy 20 mosaicism is discussed.

Keywords

Biochemistry, Genetics and Molecular Biology