Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions

1987 ◽  
Vol 75 (2) ◽  
pp. 180-187 ◽  
Author(s):  
M. Mannens ◽  
R. M. Slater ◽  
C. Heyting ◽  
A. Geurts van Kessel ◽  
E. Goedde-Salz ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Dna Probes ◽  
Chromosome 11 ◽  
Regional Localization

scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11

Science ◽  
1991 ◽  
Vol 254 (5029) ◽  
pp. 293-295 ◽  
Author(s):  
S. Dowdy ◽  
C. Fasching ◽  
D Araujo ◽  
K. Lai ◽  
E Livanos ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Chromosome 11

scholarly journals Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

1985 ◽  
Vol 82 (24) ◽  
pp. 8592-8596 ◽  
Author(s):  
V. van Heyningen ◽  
P. A. Boyd ◽  
A. Seawright ◽  
J. M. Fletcher ◽  
J. A. Fantes ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Wilms Tumor ◽  
Chromosome 11

Isolation and regional localization of 25 anonymous DNA probes on a chromosome 13 hybrid panel

1991 ◽  
Vol 57 (2-3) ◽  
pp. 87-90 ◽  
Author(s):  
R.H.J. Houwen ◽  
S.E. Pautler ◽  
J.A. Barwell ◽  
K. Arden ◽  
J.A. Buchanan ◽  
...  
Keyword(s):  
Dna Probes ◽  
Regional Localization ◽  
Chromosome 13

Mapping of Human Chromosome 11: Organization of Genes within the Wilms' Tumor Region of the Chromosome

1986 ◽  
Vol 51 (0) ◽  
pp. 837-841 ◽  
Author(s):  
D.E. Housman ◽  
T. Glaser ◽  
D.S. Gerhard ◽  
C. Jones ◽  
G.A.P. Bruns ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Wilms Tumor ◽  
Chromosome 11 ◽  
Tumor Region

Localization of the oncogene c-Ha-ras1 outside the aniridia-Wilms' tumor-associated deletion of chromosome 11(del 11p13) using somatic cell hybrids

1985 ◽  
Vol 15 (1-2) ◽  
pp. 79-84 ◽  
Author(s):  
Ad Geurts van Kessel ◽  
Roel Nusse ◽  
Rosalyn Slater ◽  
Pedro Tetteroo ◽  
Anne Hagemeijer
Keyword(s):  
Somatic Cell ◽  
Wilms Tumor ◽  
Somatic Cell Hybrids ◽  
Chromosome 11 ◽  
Cell Hybrids

scholarly journals A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

2020 ◽  
Vol 13 (S8) ◽  
Author(s):  
Tatyana A. Vasilyeva ◽  
Andrey V. Marakhonov ◽  
Marina E. Minzhenkova ◽  
Zhanna G. Markova ◽  
Nika V. Petrova ◽  
...  
Keyword(s):  
General Population ◽  
Pericentric Inversion ◽  
De Novo ◽  
Wilms Tumor ◽  
Normal Karyotype ◽  
Paternal Allele ◽  
De Novo Mutations ◽  
Chromosome 11 ◽  
Dna Diagnosis ◽  
Congenital Aniridia

Abstract Background Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a necessary step of molecular diagnostics in patients with deletions and in the patients’ parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, as well as to provide prenatal and/or preimplantation diagnostics. Case presentation DNA samples were obtained from the proband (a 2-year-old boy) and his two healthy parents. Molecular analysis revealed a 977.065 kb deletion that removed loci of the ELP4, PAX6, and RCN1 genes but did not affect the coding sequence of the WT1 gene. The deletion occurred de novo on the paternal allele. The patient had normal karyotype 46,XY and a de novo pericentric inversion of chromosome 11, inv(11)(p13q14). Conclusions We confirmed the diagnosis of congenital aniridia at the molecular level. For the patient, the risk of developing Wilms’ tumor is similar to that in the general population. The recurrence risk for sibs in the family is low, but considering the possibility of gonadal mosaicism, it is higher than in the general population.

Mapping the Y chromosome

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 39-39
Author(s):  
P. N. Goodfellow
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
X Chromosome ◽  
Dna Probes ◽  
Genetic Maps ◽  
Variable Amount ◽  
Regional Localization ◽  
Y Chromosomes ◽  
Xx Males ◽  
Human Y Chromosome

DNA probes isolated from the human Y chromosome have been used to resolve two fundamental problems concerning the biology of sex determination in man. Coincidentally, resolution of these problems has generated genetic maps of the short arm of the human Y chromosome and has allowed the regional localization of TDF. The first problem to be solved was the origin of XX males (de la Chapelle, this symposium): the majority of XX males are caused by a telomeric exchange between the X and Y chromosomes that results in TDF and a variable amount of Y-derived material being transferred to the X chromosome. The differing amounts of Y-derived material present in XX males has been used as the basis of a ‘deletion’ map of the Y chromosome (Müller; Ferguson-Smith & Affara; this symposium).

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

Cell ◽  
1990 ◽  
Vol 60 (3) ◽  
pp. 509-520 ◽  
Author(s):  
Katherine M. Call ◽  
Tom Glaser ◽  
Caryn Y. Ito ◽  
Alan J. Buckler ◽  
Jerry Pelletier ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Zinc Finger ◽  
Wilms Tumor ◽  
Chromosome 11 ◽  
Isolation And Characterization
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