| DiGeorge syndrome |
DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11.2) and Velocardiofacial syndrome (VCF). ...
출처: en.wikipedia.org/wiki/DiGeorge_syndrome
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| DiGeorge s. |
a congenital disorder in which defective development of the third and fourth pharyngeal pouches results in hypoplasia or aplasia of the thymus and parathyroid glands, often associated with congenital heart defects, anomalies of the great vessels, esophageal atresia, and abnormalities of facial structures. Depending on the degree of parathyroid and thymic hypoplasia, there are hypocalcemic tetany or seizures due to lack of parathyroid hormone and deficiency of cell-mediated immunity resulting in increased susceptibility to low-grade or opportunistic pathogens. The chromosomal abnormality is a deletion of part of the long arm of chromosome 22, resulting in the loss of the T-box gene Tbx1. Called also thymic aplasia or hypoplasia and pharyngeal pouch s.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| DiGeorge's syndrome |
see under syndrome.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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