Document Detail

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.
MedLine Citation:
PMID:  8844066     Owner:  NLM     Status:  MEDLINE    
This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable phenotypic manifestations of the disease in the course of a six-generation segregation of an MBS premutation allegedly present in a common female progenitor of 14 MBS male patients and 9 female MBS heterozygotes seen in the last two generations. The nature and stepwise progression of MBS-premutations toward the fully manifested Martin-Bell syndrome and the possibility of reverse mutational events toward the normal allele are discussed with respect to the application of the presently available diagnostic tools in genetic counselling.
M Grasso; L Perroni; F Dagna-Bricarelli; A Rinaldi; R Robledo; M Siniscalco; G Filippi
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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:  64     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Aug 
Date Detail:
Created Date:  1996-12-13     Completed Date:  1996-12-13     Revised Date:  2012-02-27    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  283-6     Citation Subset:  IM    
Centro di Genetica Umana, Ospedale Galliera, Genova, Italy.
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MeSH Terms
DNA / blood
DNA Probes
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Genetic Markers
Heterozygote Detection
Nerve Tissue Proteins / genetics*
RNA-Binding Proteins*
Sex Chromosome Aberrations / genetics*
Trinucleotide Repeats
Grant Support
C.23 BIS//Telethon
Reg. No./Substance:
0/DNA Probes; 0/FMR1 protein, human; 0/Genetic Markers; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; 9007-49-2/DNA

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