Subregional localization of 14 yeast artificial chromosomes to human chromosome region 1p by fluorescence in situ hybridization

1995 ◽  
Vol 70 (1-2) ◽  
pp. 23-25 ◽  
Author(s):  
P. Vernole ◽  
D. Caporossi ◽  
B. Tedeschi ◽  
B. Nicoletti ◽  
G.J. Van Ommen
Keyword(s):  
In Situ Hybridization ◽  
Human Chromosome ◽  
Fluorescence In Situ Hybridization ◽  
Chromosome Region ◽  
Artificial Chromosomes ◽  
Yeast Artificial Chromosomes

Sequence-independent amplification and labeling of yeast artificial chromosomes for fluorescence in situ hybridization

1994 ◽  
Vol 65 (1-2) ◽  
pp. 108-110 ◽  
Author(s):  
S.K. Bohlander ◽  
R. Espinosa III ◽  
A.A. Fernald ◽  
J.D. Rowley ◽  
M.M. Le Beau ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Artificial Chromosomes ◽  
Yeast Artificial Chromosomes

Assignment of the Gene for Cystinuria (SLC3A1) to Human Chromosome 2p21 by Fluorescence in Situ Hybridization

Genomics ◽  
1994 ◽  
Vol 24 (2) ◽  
pp. 413-414 ◽  
Author(s):  
Xiao-Xiang Zhang ◽  
Rima Rozen ◽  
Matthias A. Hediger ◽  
Paul Goodyer ◽  
Patrice Eydoux
Keyword(s):  
In Situ Hybridization ◽  
Human Chromosome ◽  
Fluorescence In Situ Hybridization

scholarly journals Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

2004 ◽  
Vol 59 (5) ◽  
pp. 266-272 ◽  
Author(s):  
Sofia Mizuho Miura Sugayama ◽  
Vera Hermina Kalika Koch ◽  
Érica Arai Furusawa ◽  
Cláudio Leone ◽  
Chong Ae Kim
Keyword(s):  
In Situ Hybridization ◽  
Urinary Tract ◽  
Fluorescence In Situ Hybridization ◽  
Chromosome Region ◽  
Voiding Cystourethrogram ◽  
High Incidence ◽  
Hybridization Test ◽  
A Prospective Study ◽  
Elastin Gene

PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended.

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