Molecular detection of constitutional deletions in patients with retinoblastoma
✍ Scribed by Blanquet, Véronique ;Créau-Goldberg, Nicole ;Grouchy, Jean De ;Turleau, Catherine
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 638 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/ 5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 → q22). This child and a si
Retinoblastoma is the most common intraocular malignancy in children. It is estimated that 60 percent of cases are nonhereditary and unilateral, 15% are hereditary and unilateral, and 25 percent are hereditary and bilateral. Hereditary predisposition for retinoblastoma is caused by germline mutation
## Communicated by David N. Cooper Quantitative multiplex PCR and genomic real-time PCR were used to complete an RB1 mutation analysis in 57 of 433 and 72 of 262 patients with hereditary and isolated unilateral retinoblastoma, respectively. These patients were selected because in previous analyses
## Communicated by Daniel F. Schorderet Constitutional mutations in the RB1 gene predispose to retinoblastoma development. Hence genetic screening of retinoblastoma patients and relatives is important for genetic counseling purposes. In addition, RB1 gene mutation studies may help decipher the mol