22q11.2 deletion syndrome
نویسنده
چکیده
DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 1 in 4000. It is characterized by craniofacial anomalies, conotruncal heart disease, thymic aplasia and hypoplasia, hypocalcemia, and psychiatric illness. In this article, the author reviews the history, clinical features, and genetic basis of this common disorder.
منابع مشابه
Case 17. 22q11.2 Deletion Syndrome
● Primary care physicians may encounter situations in which a genetic diagnosis is now possible in an individual with developmental delay whose previous genetic workup was negative. ● Testing for small chromosomal deletions, such as 22q11.2 deletion syndrome, represents an example of the improved diagnostic capabilities of current genetic testing. ● 22q11.2 deletion syndrome includes a range of...
متن کاملHow to diagnose the 22q11.2 deletion syndrome in patients with schizophrenia: a case report
The 22q11.2 deletion syndrome is caused by a microdeletion of chromosome 22. One third of all patients with 22q11.2 deletion develop schizophrenia-like symptoms. In general, the prevalence of 22q11.2 deletion in patients with schizophrenia is 1%-2%. The 22q11.2 deletion is one of the major known genetic risk factors for schizophrenia. However, clinical differences in the phenotypes between pati...
متن کاملEvans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome
We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who...
متن کاملCardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports
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...
متن کاملIncidental Radiologic Findings in the 22q11.2 Deletion Syndrome
BACKGROUND AND PURPOSE The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions. MATERIALS AND METHODS...
متن کاملThrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome
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...
متن کامل