No justification of routine screening for 22q11 deletions in patients with overt cleft palate

摘要: The velo-cardio-facial syndrome (VCFS), caused by a submicroscopic deletion of chromosome 22q11, is the most common that has palatal anomalies as major feature. A possible strategy for early detection VCFS routine screening 22q11 deletions in all infants with cleft palate (CP). purpose this study was to evaluate whether preferable testing on clinical suspicion. At Nijmegen Cleft Palate Craniofacial Center, 58 new patients overt CP were routinely tested, using fluorescence situ hybridization (FISH), deletion. One identified newborn girl an who clinically not suspected having VCFS. Based (n = 45) and literature 54), prevalence among children CP, but without any other symptoms VCFS, estimated be one 99. We take view figure rather low discovery will rarely have significant or genetic consequences. Because remain under medical attention, almost isolated recognized at later age when additional features developed. Therefore, we conclude FISH indicated, provided follow-up guaranteed.