| Constitutional karyotype in retinoblastoma. Case report and review of literature. | |
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MedLine Citation:
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PMID: 2674826 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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F Munier; G Pescia; M Jotterand-Bellomo; A Balmer; C Gailloud; F Thonney |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Ophthalmic paediatrics and genetics Volume: 10 ISSN: 0167-6784 ISO Abbreviation: Ophthalmic Paediatr Genet Publication Date: 1989 Jun |
Date Detail:
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Created Date: 1989-10-24 Completed Date: 1989-10-24 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8206832 Medline TA: Ophthalmic Paediatr Genet Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 129-50 Citation Subset: IM |
Affiliation:
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University Eye Hospital, Lausanne, Switzerland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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EC 3.1.1.-/Carboxylic Ester Hydrolases; EC 3.1.1.1/Carboxylesterase; EC 3.1.1.1/ESD protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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