نتایج جستجو برای: q31
تعداد نتایج: 182 فیلتر نتایج به سال:
OBJECTIVE To report unusual electrophysiologic data in a patient with Tangier disease in an effort to better understand the pathophysiologic features of the peripheral nerve lesions in this disease. DESIGN Case report. PATIENT A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome. MAIN OUTCOME MEASURES Electrophys...
We report the first cytogenetic analysis of a leiomyosarcoma of the sinonasal tract, a rare neoplasm. Karyotypic analysis showed near-triploid and near-tetraploid modal chromosome numbers with extensive structural and numerical aberrations. Three consistent structural changes, including i(6p), der(10)ins(10;1)(q26;q23q44), and der(12)t(1;12)(q11;q24) were observed in most cells. A der(11)t(11;?...
A novel chromosomal translocation, t(2;11)(q31;p15), was identified in a patient with therapy-related acute myelogenous leukemia (t-AML). Fluorescence in situ hybridization experiments mapped the breakpoint near NUP98; Southern blot analysis demonstrated that the nucleoporin gene NUP98 was disrupted by this translocation. We used rapid amplification of cDNA ends to identify a chimeric mRNA. An ...
Background Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing both a germline and a somatic CDC73 mutation (formerly known as HRPT2), which has been mapped to chromosome 1q25-q31. The association of jaw ossifying fibroma with primary hyperparathyroidisim (PHPT) is typical of HPT-JT. It may also include cystic and neoplastic renal abnormalities and uterine tumors....
Chromosomal translocations have proven to be important markers of the genetic abnormalities central to the pathogenesis of cancer. By cloning chromosomal breakpoints one can identify activated proto-oncogenes. We have studied a case of B-lineage acute lymphocytic leukemia (ALL) that was associated with peripheral blood eosinophilia. The chromosomal translocation t(5;14) (q31;q32) from this samp...
Juvenile Open Angle Glaucoma (GLC1A) is an autosomal optic neuropathy that has been localized previously to chromosome 1q. Here we report the fine mapping of the disease region using YACs and a high density of polymorphic microsatellite markers. This study utilized two large JOAG pedigrees genotyped at 36 loci from chromosome 1q21-q31 to refine the GLC1A locus to a approximately 3-cM region fla...
A novel chromosomal translocation, t(2;ll)(q31;pl5), was identified in a patient with therapy-related acute myelogenous leukemia (I-AMI.). Fluorescence in \iin hybridization experiments mapped the breakpoint near NUP98; Southern blot analysis demonstrated that the nucleoporin gene NUP98 was disrupted by this translocation. We used rapid amplifi cation of cDNA ends to identify a chimi-rie iiiKN ...
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