منابع مشابه
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.
متن کاملDiGeorge syndrome with mild episodic hypocalcemia
7. Nguyen NP, Borok tL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. thorax. 2009;64:174-8. 8. roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta clin Bel. 1983;38:329-32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, rodríguez JM, Gil P, et al. incre...
متن کاملDiGeorge syndrome who developed lymphoproliferative mediastinal mass
DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic ...
متن کاملDiGeorge Syndrome, Severe Combined Immunodeficiency and more
The DiGeorge Syndrome results from microdeletion in a small segment of the chromosome 22. When inherited from parents, it follows autosomal dominant patterns. There are variable clinical features related to the DiGeorge Syndrome. The most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcaemia, and psychotic disorders ...
متن کاملInterrupted right aortic arch in DiGeorge syndrome.
The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and r...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2001
ISSN: 1465-6906
DOI: 10.1186/gb-spotlight-20010926-02