Letters to the editor
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines
| The first 150 words of the full text of this article appear below. |
EDITOR
Constitutional mosaicism for two distinct
chromosome aneuploidies is a rare cytogenetic abnormality. Usually in
such cases, an autosomal aneuploidy is associated with a gonosomal aneuploidy. Little is known about the sequence of errors leading to
such complex conditions. The only available studies addressing this
issue concern three mosaic autosomal/gonosomal cases involving chromosome 8 (two cases) and chromosome 21 (one case), in all of which
chimerism could be ruled out.1 2 A mitotic origin was
inferred for both mosaic trisomy 8 cases,1 whereas the initial error in the trisomy 21 mosaic most likely occurred at meiosis.2
So far, trisomy 18 combined with monosomy X has been observed in three cases.3-5 We have recently observed a fourth patient with mosaic monosomy X/trisomy 18. We report the clinical and cytogenetic characteristics and the results of molecular analysis, which was undertaken in order to determine the origin of the aneuploid cell lines.
The female proband was the second child
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