Document Detail


Constitutional karyotype in retinoblastoma. Case report and review of literature.
MedLine Citation:
PMID:  2674826     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
F Munier; G Pescia; M Jotterand-Bellomo; A Balmer; C Gailloud; F Thonney
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Ophthalmic paediatrics and genetics     Volume:  10     ISSN:  0167-6784     ISO Abbreviation:  Ophthalmic Paediatr Genet     Publication Date:  1989 Jun 
Date Detail:
Created Date:  1989-10-24     Completed Date:  1989-10-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8206832     Medline TA:  Ophthalmic Paediatr Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  129-50     Citation Subset:  IM    
Affiliation:
University Eye Hospital, Lausanne, Switzerland.
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MeSH Terms
Descriptor/Qualifier:
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*
Chemical
Reg. No./Substance:
EC 3.1.1.-/Carboxylic Ester Hydrolases; EC 3.1.1.1/Carboxylesterase; EC 3.1.1.1/ESD protein, human

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