| Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes. | |
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MedLine Citation:
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PMID: 9575279 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter. |
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Authors:
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D Begovic; V Hitrec; R Lasan; L Letica; I Baric; V Sarnavka; S Galic |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Croatian medical journal Volume: 39 ISSN: 0353-9504 ISO Abbreviation: Croat. Med. J. Publication Date: 1998 Jun |
Date Detail:
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Created Date: 1998-08-12 Completed Date: 1998-08-12 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9424324 Medline TA: Croat Med J Country: CROATIA |
Other Details:
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Languages: eng Pagination: 212-5 Citation Subset: IM |
Affiliation:
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Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Center, Zagreb, Croatia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Aberrations
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diagnosis*,
genetics Chromosome Banding Chromosome Disorders Chromosomes, Human, Pair 13* Humans In Situ Hybridization, Fluorescence Infant, Newborn Male Phenotype Syndrome Trisomy / diagnosis, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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