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Eur J Med Genet. 2008 Nov-Dec;51(6):520-6. doi: 10.1016/j.ejmg.2008.07.008. Epub 2008 Aug 7.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

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  • 1Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. annbritt.lund@gmail.com

Abstract

A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalities. The duplication was inherited from a healthy father, but was considered clinically significant, as the patient shared clinical features with 15q24 microdeletion syndrome patients. To our knowledge this is the first report of a patient with a 15q24 microduplication.

PMID:
18755302
DOI:
10.1016/j.ejmg.2008.07.008
[PubMed - indexed for MEDLINE]
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