نتایج جستجو برای: familial translocations

تعداد نتایج: 61491  

Journal: :Frontiers in conservation science 2021

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 ...

2014
Havva Serap ToRu Sezin YAkut Zafer Çetİn Mehmet ŞİMŞek İbrahim İnanç MenDİlCİOğlu Havva Serap tORu Sibel BeRkeR

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...

2017
Leilei Li Ruixue Wang Yang Yu Qi Xi Min Liu Ruizhi Liu

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...

Journal: :Conservation biology : the journal of the Society for Conservation Biology 2009
Jennifer M Germano Phillip J Bishop

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...

Journal: :Human reproduction 2002
L Gianaroli M C Magli A P Ferraretti S Munné B Balicchia T Escudero A Crippa

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...

Journal: :international journal of pediatrics 0
khurshid wani government medical college srinagar, india. mohsin rashid government medical college, srinagar, india. musadiq alaqaband government medical college, srinagar, india. shumila manzoor government medical college, srinagar, india. shafia mustaq jamia hamdard hospital, delhi, india.

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...

Journal: :American journal of human genetics 1996
B A Sullivan L S Jenkins E M Karson J Leana-Cox S Schwartz

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...

Journal: :Conservation Physiology 2014

Journal: :Journal of Medical Genetics 1994

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