scholarly journals Prognostic implication of MET overexpression in myxofibrosarcomas: an integrative array comparative genomic hybridization, real-time quantitative PCR, immunoblotting, and immunohistochemical analysis

2010 ◽  
Vol 23 (10) ◽  
pp. 1379-1392 ◽  
Author(s):  
Jen-Chieh Lee ◽  
Chien-Feng Li ◽  
Fu-Min Fang ◽  
Jun-Wen Wang ◽  
Yung-Ming Jeng ◽  
...  
Keyword(s):  
Real Time ◽  
Quantitative Pcr ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Immunohistochemical Analysis ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Prognostic Implication ◽  
Real Time Quantitative Pcr

scholarly journals Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

2011 ◽  
Vol 96 (4) ◽  
pp. E674-E679 ◽  
Author(s):  
Carolina J. Jorgez ◽  
John W. Weedin ◽  
Aysegul Sahin ◽  
Mounia Tannour-Louet ◽  
Shuo Han ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Quantitative Pcr ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Structural Defects ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Pseudoautosomal Regions

Abstract Context: The pseudoautosomal regions (PARs) of the Y-chromosome undergo meiotic recombination with the X-chromosome. PAR mutations are associated with infertility and mental and stature disorders. Objective: The aim of the study was to determine whether men with Y-chromosome microdeletions have structural defects in PARs. Design and Participants: Eighty-seven infertile men with Y-chromosome microdeletions and 35 controls were evaluated for chromosomal rearrangements using commercial or custom (X- and Y-chromosome) array comparative genomic hybridization or by quantitative PCR of selected PAR genes. Multisoftware-defined chromosomal gains or losses were validated by quantitative PCR and FISH. Results: Array comparative genomic hybridization confirmed the AZF deletions identified by multiplex PCR. All men with Y-chromosome microdeletions and an abnormal karyotype displayed PAR abnormalities, as did 10% of men with Y-chromosome microdeletions and a normal karyotype. None of the control subjects or infertile men without Y-chromosome microdeletions had PAR duplications or deletions. SHOX aberrations occurred in 14 men (nine gains and five losses); four were short in stature (<10th percentile), and one was tall (>95th percentile). In contrast, the height of 23 men with Y-chromosome microdeletions and normal PARs was average at 176.8 cm (50th percentile). Conclusions: Y-chromosome microdeletions can include PAR defects causing genomic disorders such as SHOX, which may be transmitted to offspring. Previously unrecognized PAR gains and losses in men with Y-chromosome microdeletions may have consequences for offspring.

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