Ring 21 chromosome: the mild end of the phenotypic spectrum |
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| Authors: | R. J. M. Gardner N. A. Monk J. E. Clarkson G. J. Allen |
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| Affiliation: | Department of Paediatrics and Child Health, University of Otago, and Department of Laboratory Services, Dunedin Hospital, Dunedin, New Zealand |
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| Abstract: | The case is reported of a child with the karyotype 46,XY,r(21), who presented with linear growth retardation but who appears, at age 2 years 8 months, to be developing normally mentally. There is a small number of reports of mildly affected cases of r(21), and of some with an apparently completely normal phenotype. We presume a structural and functional cytogenetic heterogeneity underlies the observed phenotypic heterogeneity in the ring 21 spectrum. |
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| Keywords: | Ring chromosome ring 21 syndrome |
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