Abstract:
BACKGROUND:Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known. CASE PRESENTATION:A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.3. She had a paternal derivative satellited 6q of a t(6;22)(q25.3;p12)pat entailing a 6q terminal deletion, karyotype 46,XX,der(6)t(6;22)(q25.3;p12)pat [16].ish del 6q subtel-. CONCLUSION:Male and female carriers of reciprocal translocations or insertions between chromosome 6 and the short arm of any acrocentric have few unbalanced offspring mostly by adjacent-1 segregation. In addition, spontaneous abortions or male infertility was present in 7/13 instances of satellited chromosome 6.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Domínguez MG,Rivera H,Dávalos-Pulido RM,Dávalos-Rodríguez IPdoi
10.1002/jcla.23355subject
Has Abstractpub_date
2020-08-01 00:00:00pages
e23355issue
8eissn
0887-8013issn
1098-2825journal_volume
34pub_type
abstract:BACKGROUND:Bone marrow (BM) study plays an important role as initial investigation specimen of lymphoma as well as staging lymphoma. This study aimed to investigate the utility of BM studies for classification of lymphoma and evaluate features of BM involvement by lymphoma over a period of 11 years. METHODS:A total of...
journal_title:Journal of clinical laboratory analysis
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abstract:BACKGROUND:Sustaining proliferation is the most fundamental step for breast cancer tumor genesis. Accelerated proliferation is usually linked to the uncontrolled cell cycle. However, the internal and external factors linked to the activation of breast cancer cell cycle are still to be investigated. METHODS:quantitativ...
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abstract:BACKGROUND:Oxidative stress is an imbalance between the reactive oxygen species and antioxidant system. In this study, total oxidative stress (TOS) and total antioxidant capacity (TAC) were investigated with a new and practical method in childhood iron-deficiency anemia. METHOD:During the study period 80 children betw...
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abstract:BACKGROUND:To evaluate clinical features, bacterial characteristics, and risk factors for shock and mortality of immunocompromised patients with Escherichia coli bacteremia. METHODS:A nearly 6-year retrospective study of E coli bacteremia in 188 immunocompromised patients at Xiangya Hospital was conducted. Demographic...
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22853
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:
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更新日期:2007-01-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
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abstract::α-Feto protein (AFP) is the widely used tumor marker in the diagnosis of hepatocellular carcinoma (HCC). The aim of this study was to assess the diagnostic and prognostic validity of a novel marker, serum Glypican-3 (GPC3) and to compare AFP in patients with HCC. One hundred and twenty-eight patients (75 patients with...
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pub_type: 临床试验,杂志文章
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abstract:BACKGROUND:The many techniques used to diagnose the Factor V Leiden (FVL) mutation, the most common hereditary hypercoagulation disorder in Eurasians, and the most frequently requested genetic test reflect the evolving strategies in protein and DNA diagnosis. METHODS:Here, molecular methods to diagnose the FVL mutatio...
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doi:10.1002/jcla.20470
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