DiGeorge Syndrome (22q11.2 Deletion Syndrome) — Symptoms and Treatment
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چکیده
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adolescence. Microarray genetic testing is used to diagnose the syndrome. Early intervention and developmental evaluation is the key to treatment which includes multidisciplinary approach.
منابع مشابه
Digeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly
Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...
متن کاملDiGeorge Syndrome (22q11.2 Deletion Syndrome) — Symptoms and Treatment
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adoles...
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