In this contribution we review current knowledge of the chromosome 22q11 deletion
syndrome, with special emphasis on the clinical characteristics, including physical features …

The past decade has seen the development of technologies that have revolutionized
prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide …

Any test that produces visual images or digital or genetic sequences will tend to produce
incidental findings because more will be visible than what was originally sought. We …

Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes
hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …

Abstract The Wiskott-Aldrich syndrome protein (WASP; encoded by the gene WAS) and its
homologs are important regulators of the actin cytoskeleton, mediating communication …

Hereditary lymphedema is a developmental disorder characterized by chronic swelling of
the extremities due to dysfunction of the lymphatic vessels. Two responsible genes have …

Fundamental processes influencing human growth can be revealed by studying extreme
short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations …

We report data on a group of 37 VCFS patients with specific reference to their intelligence,
behaviour, and social competence. Fifty five percent of the children had a borderline to …

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%(refs.,). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …