Inverted duplication pattern in anaphase bridges confirms the breakage-fusion-bridge (BFB) cycle model for 11q13 amplification

2007 ◽  
Vol 116 (1-2) ◽  
pp. 46-52 ◽  
Author(s):  
S.C. Reshmi ◽  
S. Roychoudhury ◽  
Z. Yu ◽  
E. Feingold ◽  
D. Potter ◽  
...  
Author(s):  
Margarida L.R. Aguiar-Perecin ◽  
Janay A. Santos-Serejo ◽  
José R. Gardingo ◽  
Mateus Mondin

The maize karyotype was first characterized by the observation of pachytene chromosomes. The somatic chromosomes were identified by C-banding and FISH with repetitive DNA sequences. C-banding was useful for the identification of chromosome abnormalities in callus cultures. In the present review, we focus on the involvement of heterochromatic knobs on the occurrence of chromosome abnormalities in callus cultures. In a previous work we detected anaphase bridges resulting from delayed chromatid separation at knob regions and typical bridges derived from dicentric chromatids in cultures. The analysis of altered chromosomes showed they were derived from a chromatid-type breakage-fusion-bridge (BFB) cycle. Fluorescent in situ hybridization (FISH) showed signals of telomere sequences in the broken chromosome arm, thus giving evidence of de novo telomere formation on the broken chromosome end. Further observations of long- and short-term cultures have shown the presence of chromosome alterations derived from BFB cycles followed by chromosome healing. Additionally, the occurrence of unequal crossing over in a knob region was observed in callus culture. These results are of interest for studies on the mechanisms of chromosome alterations during evolution.


2013 ◽  
Author(s):  
Marco Ferrara ◽  
Sara Viotti ◽  
Daniela Converso ◽  
Valentina Trotta ◽  
Gloria Guidetti ◽  
...  

Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.


Tellus B ◽  
2010 ◽  
Vol 62 (5) ◽  
Author(s):  
Victor Brovkin ◽  
Stephan J. Lorenz ◽  
Johann Jungclaus ◽  
Thomas Raddatz ◽  
Claudia Timmreck ◽  
...  

2012 ◽  
Vol 14 (3) ◽  
pp. 320-326
Author(s):  
Nan WU ◽  
Honglin HE ◽  
Li ZHANG ◽  
Xiaoli REN ◽  
Yuanchun ZHOU ◽  
...  

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