Gene for DiGeorge syndrome
نویسندگان
چکیده
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 کاملExpression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
The murine Cdcrel-1 (Pnutl1) gene belongs to the family of septins, which are thought to be involved in cytokinesis in yeast, Drosophila and vertebrates. Recent studies implicate Cdcrel-1 in the regulation of vesicle transport in neurons of the adult brain. The human homologue, hCDCREL-1 maps to chromosome 22q11.2, a region commonly deleted in patients displaying velo-cardio-facial syndrome (VC...
متن کاملChromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...
متن کاملCloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome.
Deletions within human chromosome 22q11 cause a wide variety of birth defects including the DiGeorge syndrome and velo-cardio-facial (Shprintzen) syndrome. Despite the positional cloning of several genes from the critical region, it is still not possible to state whether the phenotype is secondary to haploinsufficiency of one or more than one gene. In embryological studies phenocopies of these ...
متن کاملDigeorge 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...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2001
ISSN: 1465-6906
DOI: 10.1186/gb-spotlight-20010228-04