Phenotype of a ring-chromosome 6 carrier. Clinical and cytogenetic study
Cruz-Marin, F.; Gilgenkrantz, S.; Gregoire, M.J.; Beley, G.; Pierson, M.
Journal de Genetique Humaine 28(4): 95-104
1980
ISSN/ISBN: 0021-7743 PMID: 7205202 Document Number: 156471
A ring 6 chromosome was detected in a 18 months old boy. The patient was a dwarf with psychomotor retardation, morphological anomalies i.e. microcephaly, bird head shaped facies with large ears, arched palate and micrognathia. A survey of 9 others cases collected in the medical literature permit to propose a specific phenotype for this chromosomal abnormality.
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