Role of short telomeres in inducing preferential chromosomal aberrations in human ovarian surface epithelial cells: A combined telomere quantitative fluorescence in situ hybridization and whole-chromosome painting study

2003 ◽  
Vol 37 (1) ◽  
pp. 92-97 ◽  
Author(s):  
Wen Deng ◽  
Sai Wah Tsao ◽  
Xin-Yuan Guan ◽  
Joe N. Lucas ◽  
Annie L. M. Cheung
Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4853-4853
Author(s):  
Jianyong Li ◽  
Bing Xiao ◽  
Lijuan Chen ◽  
Yu Zhu ◽  
Wei Xu ◽  
...  

Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-banding.The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by CC were defined after M-FISH analysis; 4 kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 (5/7) and -5/5q- (4/7) were the two most frequent aberrations. Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. Conclusions M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helped us identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques M-FISH and WCP can unravel complex chromosomal aberrations more precisely.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Natalya A. Lemskaya ◽  
Svetlana A. Romanenko ◽  
Yulia V. Maksimova ◽  
Asia R. Shorina ◽  
Dmitry V. Yudkin

Abstract Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the duplication/triplication. Because SMCs are so small, their origin cannot be determined by conventional cytogenetic techniques, and new molecular cytogenetic methods are necessary. Here, we applied a target approach to chromosome rearrangement analysis by isolating a chromosome of interest via microdissection and using it in fluorescence in situ hybridization (FISH) as a probe in combination with whole-chromosome painting probes. This approach allows to identify origins of both the euchromatin and repeat-rich regions of a marker. Case presentation We report a case of an adult male with congenital atresia of the rectum and anus, anotia, and atresia of the external auditory canal along with hearing loss. Karyotyping and FISH analysis with whole-chromosome painting probes of acrocentric chromosomes and the constructed microdissection library of the marker chromosome reliably identified an additional chromosome in some metaphases: mos 47,XY,+idic(22)(q11.2)[14]/46,XY [23]. Conclusion We propose to use whole-chromosome libraries and microdissected chromosomes in FISH to identify SMCs enriched with repeated sequences. We show that the methodology is successful in identifying the composition of a satellited marker chromosome.


1993 ◽  
Vol 2 (5) ◽  
pp. 505-512 ◽  
Author(s):  
Christoph Lengauer ◽  
Michael Speicher ◽  
Susanne Popp ◽  
Anna Jauch ◽  
Masafumi Taniwaki ◽  
...  

2019 ◽  
Vol 3 (1) ◽  
Author(s):  
Ivan Y. Iourov ◽  
◽  
Ilia V. Soloviev ◽  
Yuri B. Yurov ◽  
Svetlana G. Vorsanova ◽  
...  

2015 ◽  
Vol 63 (4) ◽  
pp. 517 ◽  
Author(s):  
Dwarakanath Srinivas ◽  
Vani Santosh ◽  
Sampath Somanna ◽  
Nishanth Sadashiva ◽  
Harsh Sugur

2010 ◽  
Vol 7 (3) ◽  
pp. 163-168
Author(s):  
U Kandpal ◽  
M Mishra ◽  
A Fauzdar ◽  
M Chowdhry ◽  
RN Makroo ◽  
...  

2003 ◽  
Vol 51 (4) ◽  
pp. 549-551 ◽  
Author(s):  
Anja Weise ◽  
Peter Harbarth ◽  
Uwe Claussen ◽  
Thomas Liehr

Fluorescence in situ hybridization (FISH) on human chromosomes in meta-and interphase is a well-established technique in clinical and tumor cytogenetics and for studies of evolution and interphase architecture. Many different protocols for labeling the DNA probes used for FISH have been published. Here we describe for the first time the successful use of Photoprobe biotin-labeled DNA probes in FISH experiments. Yeast artificial chromosome (YAC) and whole chromosome painting (wcp) probes were tested.


1997 ◽  
Vol 24 (4) ◽  
pp. 201-205 ◽  
Author(s):  
Mayumi Matsuta ◽  
Yuko Imamura ◽  
Morimasa Matsuta ◽  
Kohsuke Sasaki ◽  
Saiichi Kon

2017 ◽  
Vol 39 (4) ◽  
pp. 388-390
Author(s):  
Maria Eduarda Sanseverino de Lourenço da Motta Zorovich ◽  
Denise Albuquerque Dourado ◽  
Maria de Lourdes Lopes Ferrari Chauffaille

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