Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.

摘要

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a relatively newly described microdeletion syndrome characterized by developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth, and minor dysmorphic features including dolichocephaly, full brow and large or prominent ears [Cusmano-Ozog et al., 2007; Phelan, 2008]. Current thinking suggests that the reported prevalence of the 22q13.3 deletion syndrome, with its nonspecific physical findings, may be underestimated. Now, with the more frequent clinical use of array comparative genomic hybridization (aCGH) in the "genotype-first" approach to syndrome identification [Shaffer et al, 2007], its incidence is expected to increase.