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  • DiGeorge anomaly
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  • DiGeorges syndrome => thymic-parathyroid aplasia
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  • digeorge syndrome
    DiGeorge ÁõÈıº(¡­ñøý¦ÏØ), µðÁÒ¿ÀÁö ÁõÈıº
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cDGS complete form of DiGeorge syndrome
DG dentate gyrus; deoxyglucose; desmoglein; diacylglycerol; diagnosis; diastolic gallop; DiGeorge [anom...
DGA DiGeorge anomaly
DGCR DiGeorge syndrome chromosome region
PDGS partial form of DiGeorge syndrome
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  • Digeorge syndrome
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  • Digeorge syndrome
    Digeorge ÁõÈıº
    À¯Àü¼º ¸é¿ª °á¼ÕÀÇ ÇÑ Á¾·ù·Î Èä¼± Çü¼º ºÎÀü°ú ¼¼Æ÷¼º ¸é¿ª ±â´ÉÀÇ °¨¼Ò·Î ³ªÅ¸³­´Ù.
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DiGeorge, Angelo <person> U.S. Paediatrician, *1921.
See: DiGeorge syndrome.
(05 Mar 2000)
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syndrome, digeorge This disorder is characterised by (1) low blood calcium levels (hypocalcaemia) due to underdevelopment (hypoplasia) of the parathyroid glands which control calcium; (2) underdevelopment (hypoplasia) of the thymus, an organ behind the breastbone in which lymphocytes mature and multiply; and (3) defects of the heart involving the outflow tracts from the heart. most cases of dgs are due to a microdeletion in chromosome band 22q11.2. A small number of cases have defects in other chromosomes, notably 10p13. Named after the american paediatric endocrinologist angelo more than digeorge. Other names for dgs include the third and fourth pharyngeal pouch syndrome and hypoplasia of the thymus and parathyroids.
(12 Dec 1998)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • DiGeorge Syndrome - »õâ Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 21q11.2 or mutation in the TBX1 gene.
    Synonyms : Chromosome 22q11.2 Deletion Syndrome, Hypoplasia of Thymus and Parathyroids, Velo-Cardio-Facial Syndrome, Syndrome, DiGeorge, Syndrome, Velo-Cardio-Facial, Syndrome, Velocardiofacial, Velo Cardio Facial Syndrome
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DiGeorge syndrome DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11.2) and Velocardiofacial syndrome (VCF). ...
Ãâó: en.wikipedia.org/wiki/DiGeorge_syndrome
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.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
DiGeorge's syndrome see under syndrome.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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