الجمعة، 3 أغسطس 2012

DiGeorge syndrome

Identify cases that are accompanied by syndrome de George, syndrome arch pharyngeal and heart, face, velocardiofacial syndrome, or syndrome Ashberntzn Shprintzen syndrome, an immune deficiency congenital, characterized by facies anomalies, and congenital defects of the heart, and the lack secrete thyroid-peer thyroid hypoparathyroidism with a lack Pkalseyoum blood, and psychological problems related to perception and behavior, and increased susceptibility to infection, although this case is known syndrome, DiGeorge, although naming defect de George congenital are best suited DiGeorge anomaly, The group of defects is not a syndrome resulting from a single cause, but are the result of the failure of members of the embryonic in normal development.It was Hamnjton Harrington the first to notice the absence of thyroid Altimosah year 1929 in a case, and then noticed for Obdel Lobdell in 1959, that this case was accompanied by then the lack of congenital to the secretion of thyroid-peer thyroid congenital hypoparathyroidism, and was Angelo DiGeorge first noticed considerations immune associated with this case, as was first proposed that the absence of Altimosah gland, the parathyroid gland, which may arise from a disturbance in the development of pharyngeal pouches pharyngeal pockets of the third and fourth.He described Kelly Kelly in Philadelphia, Woody does not Chappelle de la Chapelle in France imbalance partial unilateral Babbga number partial monosomy of chromosome 22 which is a companion to a defect de George congenital, giving the first signs of a genetic defect, and since that time have been described many of the syndromes similar in the pattern of origin and is collected now under the Latin word vehicle means defective heart, and face anomalies, and hypoplasia of the gland Altimosah, and valleys palate, and a lack of calcium blood caused by the deletion of Babbga No. 22, however, this compound word does not summarize the full extent of the symptoms, turbulence is mixed signs and symptoms, while some persons affected by the simple difficulties in learning and craniofacial deformities subtle, others die after birth due to a lack woven gland Altimosah thymic aplasia, and the presence of large imbalances of the heart.Syndrome may be complete in the absence of T cells, or incomplete in the presence and function of T cells.

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