Document Detail


Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.
MedLine Citation:
PMID:  9575279     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
D Begovic; V Hitrec; R Lasan; L Letica; I Baric; V Sarnavka; S Galic
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Croatian medical journal     Volume:  39     ISSN:  0353-9504     ISO Abbreviation:  Croat. Med. J.     Publication Date:  1998 Jun 
Date Detail:
Created Date:  1998-08-12     Completed Date:  1998-08-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9424324     Medline TA:  Croat Med J     Country:  CROATIA    
Other Details:
Languages:  eng     Pagination:  212-5     Citation Subset:  IM    
Affiliation:
Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Center, Zagreb, Croatia.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Aberrations / 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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