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Affected sibs with fragde X syndrome exhibit an age‐dependent decrease in the size of the fragile X full mutation
Author(s) -
Mornet Etienne,
Jokle Mikael,
Bogyo Any,
Tejada Isabel,
Deluchat Christianne,
Boué Joelle,
Boué André
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04462.x
Subject(s) - fragile x syndrome , mutation , genetics , fragile x , biology , imprinting (psychology) , phenotype , gene
The sizes of the fragile X mutation in 33 sib pairs affected with fragile X syndrome were determined by Southern blot analysis. An age‐dependent decrease in the size of the mutation was found, suggesting positive selection of blood cells carrying small mutations during life or maternal imprinting.