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The Capital Region of Denmark - a part of Copenhagen University Hospital
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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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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.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume51
Issue number6
Pages (from-to)520-6
Number of pages7
ISSN1769-7212
DOIs
Publication statusPublished - 30 Aug 2008

    Research areas

  • Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Humans, Male, Nucleic Acid Hybridization, Syndrome, Case Reports, Journal Article

ID: 53438718