نتایج جستجو برای: familial translocations
تعداد نتایج: 61491 فیلتر نتایج به سال:
In response to anthropogenic threats, conservation translocations are increasingly used combat species' population and range declines. However, moving animals outside of their current distribution can mean introducing them novel conditions, even in the case reintroductions formerly inhabited areas due ecosystem changes following extirpation. This exposure conditions introduces uncertainty that ...
Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). rare...
Objective: The aim of this study was to compare the frequency of chromosomal translocations in postnatal and prenatal cases in a single laboratory in China, and to investigate the rates and indications of chromosomal translocations in postnatal diagnosis and prenatal diagnosis. Study design: 17,991 postnatal cases with reproductive failure or congenital anomalies and 4198 prenatal cases with in...
Translocations are important tools in the field of conservation. Despite increased use over the last few decades, the appropriateness of translocations for amphibians and reptiles has been debated widely over the past 20 years. To provide a comprehensive evaluation of the suitability of amphibians and reptiles for translocation, we reviewed the results of amphibian and reptile translocation pro...
BACKGROUND The incidence of abnormal pregnancies in carriers of balanced translocations depends strictly on the chromosomes involved in the translocations. The aim of this study was to verify whether conventional aneuploidy screening could be advantageously combined with preimplantation genetic diagnosis (PGD) for translocations. METHODS Twenty-eight carriers of Robertsonian and reciprocal tr...
there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...
Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subf...
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