Phenotypic variation in two patients with a ring chromosome 22
| Autor: | Steve J. Funderburk, Ivana Klisak, R. S. Sparkes |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Chromosome Aberrations
Moderate to severe Maxillary hypoplasia Adolescent Ring chromosome Genetic Variation Anatomy Biology medicine.disease Phenotype Hypotonia Skull Protruding tongue medicine.anatomical_structure Lymphedema Intellectual Disability Chromosomes Human 21-22 and Y Genetics medicine Humans Abnormalities Multiple Female medicine.symptom Genetics (clinical) |
| Zdroj: | Clinical Genetics. 16:305-310 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas 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. |
| Databáze: | OpenAIRE |
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