Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.
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.
Van Esch
Hilde
H
Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.
Backx
Liesbeth
L
Pijkels
Elly
E
Fryns
Jean-Pierre
JP
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008297:Male