Human Ring Chromosome Syndromes:An “E” Ring Associated with an Abnormal Phenotype
- 1 January 1968
- journal article
- research article
- Published by Cambridge University Press (CUP) in Acta geneticae medicae et gemellologiae
- Vol. 17 (3) , 487-494
- https://doi.org/10.1017/s1120962300012658
Abstract
Summary: In peripheral blood cultures of a phenotypically abnormal Caucasian girl, a ring-shaped chromosome was observed in place of an E group member. The rest of the chromosomes of the complement did not show any obvious structural anomaly. The ring chromosome was noted in 100% of the recorded cells, and its size in individual metaphases remained fairly constant. It is suggested that this ring chromosome has become a permanent part of the complement of the patient.Keywords
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