Diagnosis and management of fragile X syndrome.
To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. The first review in this series discusses fragile X syndrome.
Wattendorf
Daniel J
DJ
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.
Muenke
Maximilian
M
D000328:Adult; D017677:Age Distribution; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005194:Family Practice / Q000379:methods; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007255:Information Services; D040582:Inheritance Patterns / Q000235:genetics; D020407:Internet; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D009154:Mutation; D010348:Patient Care Team / Q000458:organization & administration; D010375:Pedigree; D010641:Phenotype; D011320:Primary Health Care / Q000379:methods; D016649:Primary Ovarian Insufficiency / Q000235:genetics