30
Sep
Deletion 17q12 and the HNF1B gene
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The area 17q12 includes a relatively small ~1.5 Mb segment flanked by similar areas of low-copy repeats. The presence of such an area facilitates the so-called non-allelic homologous recombination. As a result this segment is susceptible to deletions (as well as duplications). Deletions of this area are relatively common with... Read More
30
Sep
Deletion 2p16.1p15, USP34 and XPO1 genes
Deletion 2p16.1p15 is a relatively rare abnormality reported so far in ~50 patients. Most affected persons show microcephaly, growth delay, spectrum of dysmorphic features (hypertelorism, down slanting palpebral fissures, broad nasal root, short philtrum, high palate) and intellectual disability. Many patients also reveal hearing impairment, hypotonia and autism spectrum disorder.... Read More
