Abstract:
:Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple family members can be affected with mental retardation and other conditions (premature ovarian failure and tremor/ataxia), family history information is of critical importance for the diagnosis and management of affected patients and their families. This report summarizes issues for fragile X syndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-related health supervision guidelines. The diagnosis of fragile X syndrome not only involves the affected children but also potentially has significant health consequences for multiple generations in each family.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Hersh JH,Saul RA,Committee on Genetics.doi
10.1542/peds.2010-3500subject
Has Abstractpub_date
2011-05-01 00:00:00pages
994-1006issue
5eissn
0031-4005issn
1098-4275pii
peds.2010-3500journal_volume
127pub_type
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