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Ring 21 chromosome: the mild end of the phenotypic spectrum
Author(s) -
Gardner R. J. M.,
Monk N. A.,
Clarkson J. E.,
Allen G. J.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb01912.x
Subject(s) - phenotype , karyotype , genetics , ring chromosome , biology , ring (chemistry) , genetic heterogeneity , chromosome , gene , chemistry , organic chemistry
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.