N. de Leeuw, Y. E. M. Thomasse, D. Olde Weghuis, G. J. van den Hoek, Carlo M. Marcelis, Joke B. G. M. Verheij, R. S. Rijlaarsdam, van Conny Ravenswaaij-Arts, S. A. de Munnik, Frederik G. Dikkers, T. Dijkhuizen, and Faculteit Medische Wetenschappen/UMCG
Contains fulltext : 79985.pdf (Publisher’s version ) (Closed access) Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions. The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. However, she is too young to present features of this syndrome, apart from dysmorphic features like a bulbous nose and notched alae nasi. Several genes are present in the commonly deleted region, including genes with unknown function, and genes for which haploinsufficiency is known to have no phenotypic effect in mice (Wnt1). A gene that might play a role in the convulsions of our patients is KCNQ3.