7q deletion syndrome (7q32→7qter) |
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| Authors: | E L Harris R S Wappner C G Palmer B Hall N Dinno M R Seashore W R Breg |
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| Institution: | Departments of Medical Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana;Department of Pediatrics, University of California, San Francisco, California;Department of Pediatrics, University of Louisville, Louisville, Kentucky;Departments of Human Genetics and Pediatrics, Yale University School of Medicine, New Haven;Southbury Training School, Southbury, Connecticut, U.S.A. |
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| Abstract: | Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46, XX or XY, del(7)(q32); 46, XX or XY, del(7)(pter→q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases. |
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