Climbing the branches of a family tree: diagnosis of fragile X syndrome.

ABSTRACT:

Objective

To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS).

Study design

We reviewed pedigrees of families who had been evaluated at the Fragile X Syndrome Center at Emory University in Atlanta, Georgia. Through these pedigrees, we determined the number of additional family members diagnosed as FMR1 premutation carriers or with full mutation FXS after the initial diagnosis in each proband.

Results

The fragile X pedigree review identified 176 probands, including 108 males (61%) and 68 females (39%). A total of 785 family members were diagnosed with expanded fragile X alleles, including 278 males (35%) and 507 females (65%). These f

SUBMITTER: Visootsak J 

PROVIDER: S-EPMC4035419 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature