Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 52, Issue 2-3, Pages 153-156Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2009.02.003
Keywords
15q24; Diaphragmatic hernia; Mental retardation; Recurrent; Microdeletion
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Funding
- F.W.O. Vlaanderen
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The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective tissue, digital and genital anomalies and a distinct facial gestalt. Interestingly, in addition, this patient has a large congenital diaphragmatic hernia, as was described in one other patient with a 15q24 microdeletion, indicating that this feature might be part of the syndrome. Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome. (C) 2009 Elsevier Masson SAS. All rights reserved.
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