A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype

摘要

There is a growing list of deletions and duplications involving euchromatic G-positive, but also G-negative bands that seem to be harmless variants, as they are found in phenotypically normal individuals [Barber, 2005a; Kowalczyk et al., 2007; Srebniak et al., 201 la]. The common use of advanced molecular cytogenetic techniques (high-resolution array) in recent times has shown that interstitial deletions of euchromatin with no phenotypic effect are not as rare, as one could expect [Itsara et al., 2010]. However, karyotypically visible abnormalities are usually associated with an abnormal phenotype.