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J Pediatr. 2004 Dec;145(6):840-2.

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

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  • 1Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA. David.Stevenson@hsc.edu

Abstract

We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.

PMID:
15580214
[PubMed - indexed for MEDLINE]
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