Microdeletions/-duplications in the 22q11 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), velocardiofacial syndrome (VCFS; MIM 192430) and cat eye syndrome (CES; MIM 115470). DGS and VCFS have a large clinical overlap and are both caused by deletions of a specific 1-3 Mb region on chromosome 22q11. The overall birth prevalence of 22q11 deletions appears to be...

Multiplex Ligation-Dependent Probe Amplification (MLPA) was used to study the integrity of chromosomes for two WIL2-derived lymphoblastoid cell lines (TK6 and WTK1) in presence absence ionizing radiation. WTK1 cells contain a p53 mutation, whereas TK6 line has native tumor-suppressor gene. Each isolated pre- post-irradiation (2 3 Gy) analyzed by MLPA. Using probes that target specific regions o...

We describe two cases where clinical diagnoses were carried out (Rett syndrome-like and Nicolaides-Baraitser syndrome) with no identified mutation respectively in the CDKL5 and the SMARCA2 genes. Conversely a chromosomal microdeletion with contiguous deletion of a part of these two genes was found by arrayCGH in each corresponding case. The aim of this report is then to highlight the possible i...

Chromosome 22ql1 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22qll microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22qll FISH studies should therefore be perfo...