Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

1 October 1988

journal article
case report
Published by Springer Nature in Human Genetics

Vol. 80 (2) , 197-200
https://doi.org/10.1007/bf00702872

Abstract

We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.

Keywords

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