22
Feb
Chromosome 17q duplications
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Chromosome 17q12 duplications Individuals with chromosome 17q12 duplications may have a wide range of clinical features. Most notably, such individuals are found to have cognitive or developmental delays, psychiatric or neurological concerns, specific facial features, as well as defects of the eyes, heart and kidneys1. However, there is likely an... Read More
22
Feb
Chromosome 20p11.2 deletions cause congenital hyperinsulinism
Chromosome 20p11.2 deletions cause congenital hyperinsulinism. Persistent hyperinsulinism (HI) is a rare genetic condition manifested by unregulated insulin production and hypoglycemia. Laver et al. examined 1,063 undiagnosed individuals that were pursuing genetic testing for hyperinsulinism with the aim of identifying new genetic causes of HI. Whole genome sequencing detected three... Read More
