[Phenotype of a ring-chromosome 6 carrier. Clinical and cytogenetic study].
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.
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics
Phénotype d'un sujet porteur d'un chromosome 6 en anneau. Etude clinique et cytogénétique.