Literature DB >> 8098999

Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.

E Mornet1, M Jokic, A Bogyo, I Tejada, C Deluchat, J Boué, A Boué.   

Abstract

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.

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Year:  1993        PMID： 8098999     DOI： 10.1111/j.1399-0004.1993.tb04462.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.

Authors:  E Mornet; C Chateau; A Taillandier; B Simon-Bouy; J L Serre
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

2.  Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Authors:  L Vits; K De Boulle; E Reyniers; I Handig; J K Darby; B Oostra; P J Willems
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

3.  AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

Authors:  Carolyn M Yrigollen; Loreto Martorell; Blythe Durbin-Johnson; Montserrat Naudo; Jordi Genoves; Alessandra Murgia; Roberta Polli; Lili Zhou; Deborah Barbouth; Abigail Rupchock; Brenda Finucane; Gary J Latham; Andrew Hadd; Elizabeth Berry-Kravis; Flora Tassone
Journal:  J Neurodev Disord       Date:  2014-07-30       Impact factor: 4.025
  3 in total

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