Terminal deletion(4)(q33) in a male infant |
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| Authors: | Judith Stamberg Ethylin Wang Jabs Ellen Elias |
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| Affiliation: | Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, U.S.A |
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| Abstract: | The deletion of 4q31→qter is associated with a recognizable "4q- syndrome". It has been proposed that the much rarer deletion 4q33→qter causes a milder phenotypic expression of the 4q- syndrome. We present the second case, the first male, with the latter deletion and compare his clinical features to those of other 4q- patients. |
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| Keywords: | Chromosomal defect chromosome 4 deletion syndrome dysmorphism partial monosomy 4q |
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