Article
Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.
Ophthalmic genetics - 1 Mar 2001
Bojinova R I, Schorderet D F, Addor M C, Gaide A C, Thonney F, Pescia G, Nenadov-Beck M, Balmer A, Munier F L
Abstract excerpt
Thirteen years ago, Motegi and colleagues (J Med Genet 1987;24:696-697) summarized the specific facial phenotype of six Japanese retinoblastoma patients with interstitial 13q14 deletions. Among a series of 228 propositi with retinoblastoma referred to the Lausanne Retinoblastoma Clinic for treatment and genetic counseling between 1986 and 1997, 13 (5.7%) were diagnosed with a cytogenetic de-novo 13q14 deletion....
Topics
- Child, Preschool
- Chromosomes, Human, Pair 13
- Facies
- Female
- Gene Deletion
- Humans
- Infant
- Male
- Phenotype
- Retinal Neoplasms
- Retinoblastoma