Document Detail

Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD.
MedLine Citation:
PMID:  18983755     Owner:  NLM     Status:  MEDLINE    
Although the chromosome 18 alpha-satellite probe is considered to have a very low polymorphism rate, the routine use of this probe in prenatal diagnosis revealed rare variants in size and copy number of these sequences. A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos. Hybridization to the woman's metaphasic lymphocytes revealed that the small signal was localized in the pericentromeric region of chromosome 1. Reanalysis of blastomeres with telomeric probes for chromosome 18q confirmed the presence of only two copies of chromosome 18. Options for verifying PGD analysis results, to prevent misdiagnosis in cases of suspected polymorphism, are discussed. Although some authors speculate about a possible role of heterochromatin polymorphism in infertility, this rare polymorphism of 18 alpha-satellite sequences is in itself probably a normal variant. This is the third report of a cross-hybridization of the chromosome 18 alpha-satellite probe and the first report of the localization of the polymorphic 18 alpha-satellite signal to chromosome 1.
Petra Musilova; Roman Rybar; Eva Oracova; Katerina Veselá; Jiri Rubes
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Reproductive biomedicine online     Volume:  17     ISSN:  1472-6491     ISO Abbreviation:  Reprod. Biomed. Online     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-11-05     Completed Date:  2009-01-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101122473     Medline TA:  Reprod Biomed Online     Country:  England    
Other Details:
Languages:  eng     Pagination:  695-8     Citation Subset:  IM    
Veterinary Research Institute, Hudcova 70, 621 00 Brno, Czech Republic.
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MeSH Terms
Chromosomes, Human, Pair 1 / genetics*
Chromosomes, Human, Pair 18 / genetics*
DNA Probes / genetics
DNA, Satellite / genetics
In Situ Hybridization, Fluorescence
Polymorphism, Genetic
Preimplantation Diagnosis*
Reg. No./Substance:
0/DNA Probes; 0/DNA, Satellite

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

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