FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

Genetics and Molecular Biology

Volumn 23, Issue 3, 2000, Pages 535-539

  Llerena J C , Jr ^a   de Almeida, C ^a   Bastos, E ^a   Crolla, J A ^a  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG; DNA; ONCOPROTEIN;

ANIRIDIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME 13P; CHROMOSOME 13Q; CHROMOSOME 14; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 13; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENITAL MALFORMATION; HIGH RISK PATIENT; HUMAN; INFANT; MENTAL DEFICIENCY; NEPHROBLASTOMA; SYNDROME;

EID: 0034517427     PISSN: 14154757     EISSN: None     Source Type: Journal    
DOI: 10.1590/s1415-47572000000300006     Document Type: Article

References (18)

1. The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detected in 12 cases
2. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11
3. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
4. FISH studies in a patient with sporadic aniridia and t(7;11)(q31.2;p13)
5. A FISH approach to defining the extent and significance of deletions at the WAGR locus
6. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
7. A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: Distal p13 to proximal p15.1
8. Aniridia-Wilms' tumor association; evidence for specific deletion of 11p13
9. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
10. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
11. PAX6 mutations in aniridia
12. The human PAX6 gene is mutated in two patients with aniridia
13. Chromosomal imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion
14. A WAGR region gene between PAX-6 and FSHB expressed in fetal brain
15. cDNA sequence, genomic organisation, and evolutionary conservation of a novel gene from the WAGR region
16. Mendelian cytogenetics. Chromosome rearrangements associated with Mendelian disorders
17. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region