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

… K Devriendt is senior clinical investigator of the FWO-Vlaanderen and of the KOOR UZLeuven.
We thank the anonymous reviewers for their valuable comments and suggestions. …

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 single-cell …

Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for the …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via …

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 …

Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes
hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations 1 . …

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

Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial
features and multiple congenital malformations; most affected individuals die before the age …

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 in …