Marcella Zollino, Rosetta Lecce, Angelo Selicorni, Marina Murdolo, Irene Mancuso, Giuseppe Marangi, Giuseppe Zampino, Livia Garavelli, Alessandra Ferrarini, Mariano Rocchi, John M Opitz, Giovanni Neri
A total of five Wolf-Hirschhorn syndrome (WHS) patient with a 4p16.3 de novo microdeletion was referred because of genotype-phenotype inconsistencies, first explained as phenotypic variability of the WHS. The actual deletion size was found to be about 12 Mb in three patients, 5 Mb in another one and 20 Mb in the last one, leading us to hypothesize the presence of an extrachromosome segment on the deleted 4p. A der(4)(4qter --> p16.1::8p23 --> pter) chromosome, resulting from an unbalanced de novo translocation was, in fact, detected in four patients and a der(4)(4qter --> q32::4p15...
October 2004: European Journal of Human Genetics: EJHG