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: Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability

Eligibility criteria:
Inclusion Criteria:

          -  Abnormal phenotype: intellectual disability and/or multiple congenital anomalies.

          -  Post-natal cases

          -  ABCR diagnosed by standard karyotype, including reciprocal translocation, inversion,
             insertion and Complex Chromosomal Rearrangement (CCR).

          -  de novo ABCR. Inherited ABCR could be included if the transmitting parent shows also
             an abnormal phenotype or if the rearrangement involves an imprinted chromosome.

          -  Array-CGH results normal that mean absence of pathogenic imbalances. Identification of
             Variant Of Unknown Significance (VOUS) does not prevent from inclusion.

          -  Information and written consent of patient or his legal representative (information
             and consent form available on request).

          -  Covered by a Health System

        Exclusion Criteria:

          -  Pathogenic genomic imbalance demonstrated by array-CGH.

          -  Identification of an independent etiology (i.e. monogenic disease, environment,…).

          -  Rejection to participate ton the study

          -  Weight inferior to 6 kg
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 3 Months old.


Eligibility (NLI label): Contradiction