Phenotypic variation in two patients with a ring chromosome 22
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 16 (5) , 305-310
- https://doi.org/10.1111/j.1399-0004.1979.tb01007.x
Abstract
Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one manifested only minimal dysmorphic features, the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.Keywords
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