title: Constitutional karyotype in retinoblastoma. Case report and review of literature.
abstract: High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.
authors.affiliation: University Eye Hospital, Lausanne, Switzerland.
authors.forename: F
authors.initials: F
authors.lastname: Munier
authors.forename: G
authors.initials: G
authors.lastname: Pescia
authors.forename: M
authors.initials: M
authors.lastname: Jotterand-Bellomo
authors.forename: A
authors.initials: A
authors.lastname: Balmer
authors.forename: C
authors.initials: C
authors.lastname: Gailloud
authors.forename: F
authors.initials: F
authors.lastname: Thonney
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000097:blood; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012175:Retinoblastoma / Q000235:genetics*
chemical_list: D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human