Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

摘要: Interstitial deletions of the distal part chromosome 2p seem to be rarely identified or reported: date, only nine distinct patients have been published. The last three were diagnosed with use more recent molecular karyotyping technology (SNP array). We report on natural history an 8-year-old boy dysmorphic features, postnatal overgrowth, microcephaly, generalized hypotonia, and global developmental delay. diagnosis was accomplished by SNP array investigation that led identification a de novo 7.4 Mb deletion 2p23.2-p24.1. present patient also developed nonsyndromic auditory neuropathy. Since encompassed OTOF gene, this haploinsufficiency suggests second allele sequencing as possible cause (DFNB9). describe phenotype review reports in del 2p23 subsequent advent genomic era. At time "new" micro- -duplication syndromes, adds description del(2)p(23.2;24.1) 2p23.2 region particular.