Constitutional karyotype in retinoblastoma. Case report and review of literature
Details
Serval ID
serval:BIB_22C5BA876A4A
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Constitutional karyotype in retinoblastoma. Case report and review of literature
Journal
Ophthalmic Paediatrics and Genetics
ISSN
0167-6784 (Print)
Publication state
Published
Issued date
06/1989
Volume
10
Number
2
Pages
129-50
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Jun
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Jun
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.
Keywords
*Carboxylesterase
Carboxylic Ester Hydrolases/blood
Child, Preschool
*Chromosome Aberrations
Chromosome Deletion
Chromosome Mapping
*Chromosomes, Human, Pair 13
Eye Neoplasms/*genetics
Female
Humans
Infant
Karyotyping
Male
Pedigree
Retinoblastoma/*genetics
Pubmed
Web of science
Create date
28/01/2008 13:54
Last modification date
20/08/2019 14:00
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