Case 17. 22q11.2 Deletion Syndrome
ثبت نشده
چکیده
● 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 clinical findings, all caused by the same chromosomal deletion. ● Most individuals with the 22q11.2 deletion have a de novo deletion, meaning that neither of their parents has the deletion. ● To determine the recurrence risk of 22q11.2 deletion syndrome, parents of affected individuals should be tested for the deletion. Siblings should be tested if they have suggestive features.
منابع مشابه
Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points It is important to discard ge...
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 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 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 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 کامل