Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

2007 ◽  
Vol 143A (22) ◽  
pp. 2727-2732 ◽  
Author(s):  
L. Rodríguez ◽  
T. Liehr ◽  
K. Mrasek ◽  
E. Mansilla ◽  
M.L. Martínez-Fernández ◽  
...  
Keyword(s):  
Supernumerary Chromosome ◽  
Chromosome Marker ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques ◽  
Trisomy 18P

scholarly journals Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

2011 ◽  
Vol 28 (7) ◽  
pp. 621-626
Author(s):  
Monica Martinez-Garcia ◽  
Eva Ainse ◽  
Maria García-Hoyos ◽  
Ana Bustamante ◽  
Rocio Cardero ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Monosomy 21 ◽  
Molecular Cytogenetic Techniques

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

Characterization of the A673 cell line (Ewing tumor) by molecular cytogenetic techniques

2003 ◽  
Vol 141 (2) ◽  
pp. 138-142 ◽  
Author(s):  
A Martı́nez-Ramı́rez ◽  
S Rodrı́guez-Perales ◽  
B Meléndez ◽  
B Martı́nez-Delgado ◽  
M Urioste ◽  
...  
Keyword(s):  
Cell Line ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques ◽  
Ewing Tumor

scholarly journals Contributions of Cytogenetics and Molecular Cytogenetics to the Diagnosis of Adipocytic Tumors

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Jun Nishio
Keyword(s):  
Fusion Gene ◽  
Molecular Cytogenetics ◽  
Chromosomal Translocations ◽  
Molecular Cytogenetic ◽  
Mesenchymal Neoplasms ◽  
Adipocytic Tumors ◽  
Molecular Cytogenetic Techniques ◽  
Conventional Cytogenetics ◽  
Well Differentiated

Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16)(q13;p13) that produces aC11orf95-MKL2fusion gene in chondroid lipoma. Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13–15 involving theMDM2,CDK4, andCPMgenes is shown by FISH in these tumors. Moreover, myxoid/round cell liposarcoma is characterized by a translocation t(12;16)(q13;p11) that fuses theDDIT3andFUSgenes. This paper provides an overview of the role of conventional cytogenetics and molecular cytogenetics in the diagnosis of adipocytic tumors.

scholarly journals Application of Veterinary Cytogenetics in Domestic Animals: A Review

2019 ◽  
pp. 1-16
Author(s):  
Muhammad Sanusi Yahaya ◽  
Mohd Shahrom Salisi ◽  
Nur Mahiza Md. Isa ◽  
Abd Wahid Haron ◽  
Innocent Damudu Peter
Keyword(s):  
Chromosomal Abnormalities ◽  
Hybrid Sterility ◽  
Molecular Cytogenetics ◽  
Basic Research ◽  
Animal Production ◽  
Somatic Development ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Cytogenetics is the study of chromosomes; their structure and properties, chromosome behavior during cell division, their influence on traits and factors which cause changes in chromosomes.  Veterinary cytogenetics is the application of cytogenetics to clinical problems that occur in animal production. It has been applied to understand problems such as infertility and its types, embryonic and fetal death, abnormality in sexual and somatic development and hybrid sterility and also prenatal sex determination and other forms of chromosomal abnormalities. These are achieved through conventional and banded karyotyping techniques and molecular cytogenetic techniques. Although conventional techniques are still useful and very widely applied, the nature of cytogenetics has gradually changed as a result of advances achieved in the molecular cytogenetic techniques for example fluorescent in situ hybridization and array-based techniques. These changes are evident in both molecular diagnostics and basic research. The combination of conventional and molecular cytogenetics has given rise to high resolution techniques which have enabled the study of fundamental questions regarding biological processes. It enables the study of inherited syndromes, the mechanisms of tumorigenesis at molecular level, genome organization and the determination of chromosome homologies between species. It allows the ease with which animals are selected in breeding programs and other important aspects of animal production. In this paper we discussed a number of techniques employed in cytogenetics and their methodologies, and recommend where future focus should be for the benefits of animal production.

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