Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Is MED13L-related intellectual disability a recognizable syndrome?

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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