A case of translocation D-, t(lp+) |
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| Authors: | Soudek Dušan Brunecký Zdenek Laxová Renata |
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| Institution: | (1) Institute of Pediatric Research, Faculty of Medicine, Brno, Czechoslovakia;(2) 1st Pediatric Clinic, Faculty of Medicine, Brno, Czechoslovakia;(3) Department of Anatomy Health Sciences Centre, University of Western Ontario, London, Ontario, Canada;(4) Kennedy-Galton Centre, Harpebury Hospital, St. Albans, Herts, England |
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| Abstract: | Summary A severely retarded, dystrophic, hypotonic boy with joint hyperflexibility, jaw anomalies, cerebral hypoplasia and failure to thrive is reported. He died at the age of 8 months. Clinical and biochemical investigation revealed predominantly normal values. An unusual type of palmar crease was found. Chromosomal studies showed a translocation, probably a mosaic with normal cells. The parents are chromosomally normal. |
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