Document Detail


Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.
MedLine Citation:
PMID:  7747780     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This is the smallest piece of chromosome 8 to be reported in a patient with mosaic trisomy 8 syndrome. When the clinical picture is strongly suggestive of trisomy for a specific chromosome region, we believe that FISH can be used to test markers in a guided, rather than random, fashion.
Authors:
N B Spinner; K R Grace; N L Owens; L Sovinsky; J E Pellegrino; D McDonald-McGinn; E Zackai
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  56     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-06-13     Completed Date:  1995-06-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  22-4     Citation Subset:  IM    
Affiliation:
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Banding
Chromosomes, Human, Pair 8*
Genetic Markers
Humans
Infant, Newborn
Male
Mosaicism / diagnosis*,  genetics
Phenotype
Trisomy*
Chemical
Reg. No./Substance:
0/Genetic Markers

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