Developmental abnormalities associated with a ring chromosome 6
- PMID: 4774541
- PMCID: PMC1013038
- DOI: 10.1136/jmg.10.3.299
Developmental abnormalities associated with a ring chromosome 6
Abstract
A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.
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