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Clin Dysmorphol. 2005 Oct;14(4):169-75.

Three new cases with a supernumerary ring chromosome 1.

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Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain.


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.

[Indexed for MEDLINE]

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