DiGeorge syndrome: an historical review of clinical and cytogenetic features.

DiGeorge syndrome: an historical review of clinical and cytogenetic features.

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...

[Historical and clinical review about Asperger syndrome].

Features of DiGeorge syndrome and CHARGE association in five patients.

We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were norma...

Clinical features of Tourette syndrome and tic disorders

Childhood is an important period of human life. Now children do not only need physical care and attention, but the attention and training should include all aspects of social development, emotional, and intellectual personality encompassing. In the meantime, according to the course of the disease is important. Disorders of childhood and adolescence can delay or even prevent the social developme...

Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are associated with no abnormalities found on genetic tests.