Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb
نویسندگان
چکیده
منابع مشابه
Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.
The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because many cases are large deletions, often terminal, and because high-resolution array has not been reported in the evaluation of this group of pati...
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Down syndrome is the most common birth defect, which is caused by trisomy 21. We identified a novel gene in the so-called Down syndrome critical region by EST mapping to genomic DNA and following cDNA cloning. The gene, designated DCRB (Down syndrome Critical Region gene B), consisted of three exons of 1095 bp in total and encoded a large open reading frame of 118 amino acid residues. The amino...
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The "Down syndrome critical region" (DSCR) is a chromosome 21 segment purported to contain genes responsible for many features of Down syndrome (DS), including craniofacial dysmorphology. We used chromosome engineering to create mice that were trisomic or monosomic for only the mouse chromosome segment orthologous to the DSCR and assessed dysmorphologies of the craniofacial skeleton that show d...
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Down syndrome (DS) is a developmental disorder caused by a third chromosome 21 in humans (Trisomy 21), leading to neurological deficits and cognitive impairment. Studies in mouse models of DS suggest that cognitive deficits in the adult are associated with deficits in synaptic learning and memory mechanisms, but it is unclear whether alterations in the early wiring and refinement of neuronal ci...
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Down syndrome (DS) is a very complex disorder that requires, even more than other human genetics diseases, a “system level” understanding [1,2], both under the clinical and under the molecular genetics perspectives. Under the clinical point of view, all individuals affected by Down syndrome are characterized by learning disabilities, distinctive facial features, and low muscle tone (hypotonia) ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2000
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200461