Hypotelorism in trisomy 1-producing mice

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Abstract

Trisomy 1 embryos in mice are smaller in all dimensions, showing a developmental retardation as compared with euploid mice. Very rarely the trisomic embryos develop a typical hypotelorism with holoprosencephalon and missing olfactory nerves. Corneal distances, angles between the optic nerves and further microscopic examination showed no intermediate forms between the trisomy 1 embryos and the rare trisomy 1 embryo with hypotelorism. There seems to be a threshold, beyond which the major developmental derangement occurred. This is an experimental model showing parallels to the occasional varying phenotypes in human trisomies.

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