Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family
| Autor: | Fabienne Prieur, Anne Puech, Marie-Françoise Berthéas, Manfred Gessler, F. Barichard, Claudine Junien, G. A. P. Bruns, Isabelle Henry, Marcel M.A.M. Mannens, Jan M.N. Hoovers |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1993 |
| Předmět: |
Genetic Markers
Male Cancer Research medicine.medical_specialty Genotype Restriction Mapping WAGR syndrome Biochemie Biology Wilms Tumor ddc:570 Genetics medicine Humans Pseudohermaphroditism Family Child Chromosomes Human Pair 11 Cytogenetics Chromosome Wilms' tumor Karyotype medicine.disease Cosmids Kidney Neoplasms Chromosome Banding Pedigree Aniridia Genetic marker DNA Transposable Elements Female Chromosome Deletion |
| Zdroj: | Genes, chromosomes & cancer, 7(1), 57-62. Wiley-Liss Inc. Scopus-Elsevier |
| ISSN: | 1045-2257 |
| Popis: | The combined use of qualitative and quantitative analysis of I I p I 3 polymorphic markers tagether with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to I I p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric intrachromosomal insertion responsible (or recurrence of del( I I )(p 13p 14) in the family: an insertion of band I I p 13-p 14 carrying the genes for predisposition to Wilms' tumor, WT I, and for aniridia, AN2, into the long arm of chromosome I I in II q 13-q 1 |
| Databáze: | OpenAIRE |
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