BACKGROUND Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new tech...

It is now over 28 years since Dr Angelo DiGeorge' commented on a paper by Dr Max Cooper and colleagues2 regarding the congenital absence of the thymus. At the 1965 Society for Pediatric Research (SPR) meeting, Dr Cooper gave a paper showing that the lymphoid system of the chicken consisted of two different components, the bursal system and the thymic system. Ablation of the bursal system caused...

Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause of maternal morbidity and mortality globally. Chromosome 22q11.2 deletion syndrome is rare cause of thrombocytopenia that can be a significant...

DiGeorge syndrome was diagnosed in an infant who had an interrupted aortic arch, hypoparathyroidism, and low T lymphocyte numbers. Two siblings had heart defects that are not commonly described in DiGeorge syndrome (a membranous ventricular septal defect and coarctation of the aorta respectively). These siblings did not have evidence of thymic dysfunction or hypoparathyroidism. Chromosome analy...

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 ...

Deletions within human chromosome 22q11 cause a wide variety of birth defects including the DiGeorge syndrome and velo-cardio-facial (Shprintzen) syndrome. Despite the positional cloning of several genes from the critical region, it is still not possible to state whether the phenotype is secondary to haploinsufficiency of one or more than one gene. In embryological studies phenocopies of these ...

Hypocalcemia is a known cause of reversible cardiomyopathy and DiGeorge syndrome is an important cause of hypocalcemia. A 17 days old 2.3 kg female child, first in birth order, born to a primigravida mother by full term LSCS started having tonic-clonic jerks on day 8 of life and was also noticed to have bluishness of lips and nails, when she was referred to us. Child had intermittent episodes o...

Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutati...