Partial deletion of the long arm of chromosome No. 13 |
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| Authors: | Cuschieri A. Agius P. Vassallo Scheres J. M. J. C. |
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| Affiliation: | (1) Department of Anatomy, University of Malta, Malta, The Netherlands;(2) Department of Medicine, University of Malta, Malta, The Netherlands;(3) Division of Cytogenetics, Department of Human Genetics, Faculty of Medicine, Catholic University, Nijmegen, The Netherlands |
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| Abstract: | Summary A case of partial deletion of chromosome No. 13 identified by G banding as 46,XX,del(13)(q21-qter) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalgus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discussed. |
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