Clinical trial: Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability (NCT02451761)

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.


Patient description (medical language): 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 description (patient's own words): 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.

Does the patient match the trial criteria? Contradiction