نتایج جستجو برای: deletion 6q
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This report concerns a woman who experienced a relapse of acute lymphoblastic leukemia (ALL) associated with an interstitial deletion of the long arm of chromosome 6 in donor cells more than 4 years after allogeneic bone marrow transplantation (BMT). Direct bone marrow preparations revealed the presence of two leukemic clones 46,XY,del(6)(q23q25) and 45,X,-4,del(6)(q23q25),+8,-15,-21,+i(21q), +...
Agenesis of the corpus callosum (ACC) is a relatively common brain abnormality resulting from developmental defects either limited to the structures leading to the proper formation of the corpus callosum or involving the embryo forebrain more generally. ACC is genetically heterogeneous with autosomal dominant, autosomal recessive, and X linked inheritance and has also been reported in subjects ...
Hepatocellular adenoma (HCA) is a frequent long-term complication of glycogen storage disease type I (GSD I) and malignant transformation to hepatocellular carcinoma (HCC) is known to occur in some cases. However, the molecular pathogenesis of tumor development in GSD I is unclear. This study was conducted to systematically investigate chromosomal and genetic alterations in HCA associated with ...
The loss of genetic material from specific chromosomal locations in a given tumor type has been taken for evidence of the importance of tumor suppressor genes at these loci in the genesis of the tumor. The primitive neuroectodermal tumor of the central nervous system has such a loss on 17p in one-third of tumors. In this report, a detailed analysis of 17p loss in 23 tumors has been performed us...
Complex karyotypes are often seen in primary surface epithelial ovarian tumors (SEOTs). Conventional cytogenetic as well as fluorescence in situ hybridization analyses coupled with loss of heterozygosity studies identified abnormalities of chromosome 6 as one of the most frequent lesions in these types of tumors. We performed cytogenetic analysis of direct preparations from 40 SEOTs, including ...
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype-phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities.
Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. Using comparative genomi...
sis of the CSF showed neoplastic cells with a frequency of 92.0% (Fig. 2C) and positivity for both CD56 and CD123 on immunocytochemical staining (Fig. 2D). He was diagnosed with leptomeningeal involvement of BPDCN. He was treated with intrathecal injections of high-dose cytarabine (40 mg) and methotrexate (15 mg) for 3 months, and he has been in complete remission for 4 months without evidence ...
Relatively frequent losses of heterozygosity on chromosomes 5q, 6q, and 10q, in addition to loss of heterozygosity on the short arm of chromosome 3, have been observed in renal cell carcinomas. As the first step toward isolation of tumor suppressor genes on these three chromosomal arms, we used six restriction fragment length polymorphism markers for 5q, nine for 6q, and eight for 10q to identi...
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