Article
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
BMC medical genetics - 17 May 2014
Frigerio Simona, Disciglio Vittoria, Manoukian Siranoush, Peissel Bernard, Della Torre Gabriella, Maurichi Andrea, Collini Paola, Pasini Barbara, Gotti Giacomo, Ferrari Andrea, Rivoltini Licia, Massimino Maura, Rodolfo Monica
Abstract excerpt
BACKGROUND: Association of melanoma, neural system tumors and germ line mutations at the 9p21 region in the CDKN2A, CDKN2B and CDKN2BAS genes has been reported in a small number of families worldwide and described as a discrete syndrome in melanoma families registered as a rare disease, the melanoma-astrocytoma syndrome. CASE PRESENTATION: We here studied two young patients developing melanoma after radiotherapy...
Topics
- Adolescent
- Alleles
- Astrocytoma
- Biopsy
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 9
- Comparative Genomic Hybridization
- Female
- Genotype