Spontaneous chromosomal aberrations in Fanconi anaemia, ataxia telangiectasia fibroblast and Bloom's syndrome lymphoblastoid cell lines as detected by conventional cytogenetic analysis and fluorescence in situ hybridisation (FISH) technique

1995 ◽  
Vol 334 (1) ◽  
pp. 59-69 ◽  
Author(s):  
E.T. Sakamoto Hojo ◽  
P.C.M. van Diemen ◽  
F. Darroudi ◽  
A.T. Natarajan
Keyword(s):  
Cell Lines ◽  
Chromosomal Aberrations ◽  
Ataxia Telangiectasia ◽  
Cytogenetic Analysis ◽  
In Situ Hybridisation ◽  
Fanconi Anaemia ◽  
Lymphoblastoid Cell Lines ◽  
Fluorescence In Situ Hybridisation ◽  
Conventional Cytogenetic Analysis

New trends in chromosomal investigation in children with cardiovascular malformations

2004 ◽  
Vol 14 (6) ◽  
pp. 622-629 ◽  
Author(s):  
Ruth Schellberg ◽  
Gesa Schwanitz ◽  
Lutz Grävinghoff ◽  
Rolf Kallenberg ◽  
Detlef Trost ◽  
...  
Keyword(s):  
Chromosomal Aberrations ◽  
In Situ Hybridisation ◽  
High Rate ◽  
Diagnostic Approach ◽  
Fluorescence In Situ Hybridisation ◽  
Cardiovascular Malformations ◽  
Genetic Investigation ◽  
Different Types ◽  
Cardiovascular Defects

We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient.

scholarly journals Chromosomal aberrations identified in culture of squamous carcinomas are confirmed by fluorescence in situ hybridisation

1999 ◽  
Vol 52 (1) ◽  
pp. 42-46 ◽  
Author(s):  
M. J. Worsham ◽  
S. R. Wolman ◽  
T. E. Carey ◽  
R. J. Zarbo ◽  
M. S. Benninger ◽  
...  
Keyword(s):  
Chromosomal Aberrations ◽  
In Situ Hybridisation ◽  
Fluorescence In Situ Hybridisation

Cytogenetic analysis of paediatric astrocytoma using comparative genomic hybridisation and fluorescence in-situ hybridisation

2010 ◽  
Vol 98 (3) ◽  
pp. 305-318 ◽  
Author(s):  
Samantha J. Ward ◽  
Katherine Karakoula ◽  
Kim P. Phipps ◽  
William Harkness ◽  
Richard Hayward ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
In Situ Hybridisation ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Fluorescence In Situ Hybridisation
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