Document Detail


Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization.
MedLine Citation:
PMID:  7604849     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Unbalanced de novo rearrangements, difficult to characterize by conventional cytogenetic techniques, may be elucidated by molecular approaches. By dinucleotide repeat polymorphism typing and fluorescence in situ hybridization (FISH), we have defined the composition of an unbalanced de novo translocation (46,XX,15p+) in a child with multiple congenital anomalies. Use of a microsatellite repeat D5S208 (localized to 5p15) and polymerase chain reaction (PCR) analysis confirmed that the extra segment originated from the short arm of chromosome 5. Amplification of the patient's DNA with primers for dinucleotide repeats D5S350 and D5S118 showed that the entire 5p (from 5pter to 5q11) was present in 3 copies. FISH confirmed the trisomic status of 5p, and further revealed the presence of centromeres of both chromosomes 5 and 15 on the rearranged chromosome thus delineating its dicentric nature. This information allowed us to redefine the de novo rearrangement in this patient as 46,XX,dic der(15)t(5;15)(q11;p11).
Authors:
J Zhao; P L Gordon; R S Wilroy; P R Martens; J Tarleton; L P Shulman; J L Simpson; S Elias; A T Tharapel
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  56     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-08-08     Completed Date:  1995-08-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  398-402     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Tennessee, Memphis, USA.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Aberrations*
Chromosome Disorders*
Chromosomes, Human, Pair 5
DNA Primers
DNA, Satellite / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic*
Translocation, Genetic*
Chemical
Reg. No./Substance:
0/DNA Primers; 0/DNA, Satellite

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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