Developmental Abnormalities Associated with a Ring Chromosome 6
Open Access
- 1 September 1973
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 10 (3) , 299-303
- https://doi.org/10.1136/jmg.10.3.299
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.Keywords
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