Endocrine Abstracts

The 22q11.2 deletion syndrome is a clinical syndrome caused by a hemizygous deletion in the chromosome 22q11.2. Clinical findings include cardiac defects, characteristic facial features, thymic hypoplasia, cleft palate, hypoparathyroidism, learning difficulties and psychiatric disorders. The importance of chromosome 22 relies on small number of genes located in the long (Q) arm participating in the development of the body plan, including the pharyngeal arches during the embryo...