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
11
Oct
14q13 deletion and neurodevelopmental symptoms
Deletions within the chromosome 14q13 region contribute to neurodevelopmental symptoms such as hypotonia and developmental delay. The article discusses two siblings – a boy and a girl – with a unique, familial 2.4 Mb deletion within 14q13.1q14.3. Shared symptoms for both siblings include seizures, developmental delay, hypotonia (low muscle tone),... Read More
