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Updated: Aug 16, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Three new cases with a supernumerary ring chromosome 1
Laura Rodríguez1, Heike Starke, Nieves Martínez Guardia
1Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain Institute of Human Genetics and Anthropology, Jena, Germany Hospital de Leganés, Madrid, Spain Institute of Human Genetics, Charité, Campus Virchow, Berlin, Germany Practice of Clinical Genetics, Düsseldorf, Germany Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Dpto de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Abstract:
We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.
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