Title: Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
Authors: Van Esch, Hilde ×
Backx, Liesbeth
Pijkels, Elly
Fryns, Jean-Pierre #
Issue Date: Mar-2009
Series Title: European Journal of Medical Genetics vol:52 issue:2-3 pages:153-156
Abstract: 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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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