Fragile X syndrome historical perspective

Fragile X syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fragile X syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Fragile X syndrome historical perspective On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Fragile X syndrome historical perspective All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Fragile X syndrome historical perspective
CDC on Fragile X syndrome historical perspective
Fragile X syndrome historical perspective in the news
Blogs on Fragile X syndrome historical perspective
Directions to Hospitals Treating Fragile X syndrome
Risk calculators and risk factors for Fragile X syndrome historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

James Purdon Martin and Julia Bell first described fragile X syndrome in 1943. A case study of family showed intellectual disability appeared to be inherited and linked to the X chromosome. Later in 1969, Herbert Lubs observed a characteristic fragile site on the lower end of the X chromosome, which was responsible for the disease.

Historical Perspective

Fragile X syndrome was described first by Martin and Bell in 1943.

References

Martin JP, Bell J. A pedigree of mental defect showing sex- linkage. J Neurol Psychiatry. 1943; 6(3-4): 154–7