Patient case (clinical description): A 15-year-old boy with mild intellectual disability is brought to the office by his parents for a routine physical examination.  The boy is going to a school for students with learning disabilities.  The patient was adopted, and his immunizations are up to date.  Review of the patient's medical records is notable for cytogenetic studies that showed a small gap near the tip of the long arm of the X chromosome, which is consistent with fragile X syndrome, an X-linked disorder. The defect is an unstable expansion of trinucleotide repeats (CGG) in the fragile X mental retardation 1 (FMR1) gene, located on the long arm of the X chromosome. He is not using any medications and vital signs are within normal levels. His blood chemistry analysis as bellow:
Blood Chemistry Value      Normal Range     Patient Value
Glucose                    90-120 mg/dl     95 mg/dl
BUN (Blood Urea Nitrogen)  7-24 mg/dl       10 mg/dl
Creatinine                 0.7-1.4 mg/dl    0.8 mg/dl
Calcium                    8.5-10.5 mg/dl   9 mg/dl
Sodium                     134-143 mEq/L    135 mEq/L
Potassium                  3.5-4.5 mEq/L    3.7 mEq/L
Chloride                   95-108 mEq/L     98 mEq/L
CO2                        20-30 mEq/L      25 mEq/L
Blood pH                   7.38-7.42        7. 39

Patient's own account: My husband and I brought our 15-year-old son to the clinic for his routine exam. My son is going to school for special needs students. We adopted him a few years ago. His vaccinations are up to date. He already passed some chromosome testing and they found that he has a fragile X syndrome. The doctor told us that it comes from repeats in the fragile X chromosome. My son is not using any medication and his blood pressure temperature and breathing were normal during the exam. He also did a blood test. The results came back and showed that his blood sugar urea creatinine calcium sodium potassium chloride CO2 and blood pH were all within the normal range.

Clinical trial: Protein Synthesis in the Brain of Patients With Fragile X Syndrome

Eligibility criteria:
-  INCLUSION CRITERIA:

        Fragile X subjects:

        Male subjects, 18-24 years of age, with diagnosis of fragile X syndrome will be considered.
        Diagnosis will be confirmed by molecular genetic testing. Subjects with CGG repeat
        sequences greater than 200 and methylation of FMR1 will be included.

        Control:

        Male subjects, 18-24 years of age will be considered.

        EXCLUSION CRITERIA:

        Fragile X subjects:

        Fragile X subjects with a high level of repeat size or methylation mosaicism will be
        excluded. Fragile X subjects on psychotropic medications will be excluded from the study.
        Fragile X subjects who have received radiation doses for research purposes exceeding 4 rem
        (whole body effective dose) in the previous 12 months will be excluded. Fragile X subjects
        in whom MRI is contraindicated will be excluded. Subjects with metal objects in their
        bodies, such as pacemakers, aneurysm clips (metal clips on the wall of a large artery),
        metallic prostheses, cochlear implants, or shrapnel fragments will be excluded from the
        study. Welders and metal workers at risk for eye injury because of unsuspected tiny metal
        fragments there will also be excluded. Subjects in whom sedation is contraindicated will be
        excluded. Fragile X subjects on medications that interfere with blood coagulation will be
        excluded (see Appendix 1). In addition, fragile X subjects with respiratory illnesses or
        cardiovascular diseases will be excluded as there might be increased risk of complications
        with sedation/anesthesia.

        Control:

        Subjects with premutation alleles, i.e., repeat length between 55 and 200 will be excluded.
        Subjects with IQ less than 90 or subnormal language skills will be excluded. Subjects on
        psychotropic medication will be excluded from the study. Subjects who have received
        radiation doses for research purposes exceeding 3.5 rem (whole body effective dose) in the
        previous 12 months and subjects for whom MRI is contraindicated will be excluded. Subjects
        in whom sedation is contraindicated will be excluded from Part II. Subjects on medications
        that interfere with blood coagulation will be excluded (see Appendix 1). Subjects with any
        previous history of psychiatric or neurological disease, as assessed by the Structured
        Clinical Interview for DSM-IV (SCID), will be excluded. In addition, subjects with
        respiratory illnesses or cardiovascular diseases will be excluded from Part II as there
        might be increased risk of complications with sedation/anesthesia. Subjects positive for
        HIV will be excluded from the study. Subjects with positive results on the urine drug
        screen will be excluded.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 24 Years

Eligibility (NLI label): Contradiction