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Literature DB >> 3502696

De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.

E Calzolari, P Palazzi, V Aiello, E Mazzeo, P Perri, A Minelli, L del Senno, P Patracchini, F Bernardi.

Abstract

We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay. The translocation of the terminal portion of chromosome 8 has been observed by in situ hybridization with c-myc and thyroglobulin probes.

Entities: Disease Gene Species

Mesh：

Substances：
Genetic Markers

Year: 1987 PMID： 3502696 DOI： 10.1007/BF00284713

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

24 in total

1. Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.

Authors: D L George; U Francke
Journal: Cytogenet Cell Genet Date: 1976

2. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

Authors: R S Sparkes; S Targum; E Gershon; G F Sensabaugh; M C Sparkes; M Crist
Journal: Hum Genet Date: 1979-02-15 Impact factor: 4.132

3. Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

Authors: S Walker; P J Howard; D Hunter
Journal: J Med Genet Date: 1985-12 Impact factor: 6.318

2. Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

Authors: P Patracchini; E Calzolari; V Aiello; P Palazzi; P Banin; G Marchetti; F Bernardi
Journal: Hum Genet Date: 1989-10 Impact factor: 4.132

2 in total

De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.

1. Gene dose effect: regional mapping of human glutathione reductase on chromosome 8.

2. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

3. Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

4. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.

5. Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization.

6. Deletion of band 13q21 is compatible with normal phenotype.

7. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

8. A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q.

9. A general theory of carcinogenesis.

10. Mutation and cancer: statistical study of retinoblastoma.

1. Sublocalization of the human protein C gene on chromosome 2q13-q14.

2. Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.