--- a +++ b/datasets/txt/topics2022/22.txt @@ -0,0 +1,11 @@ +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 \ No newline at end of file