Today is my first day to see pt. I was very busy and productive.

I saw two little patients. The first patient was only 3 weeks old. He had some malformations including hypospadia, club feet. His great toes were significantly longer than that of normal infants. His thumbs were malpositioned. His karyotype showed that he had 3-way balanced translocation. We think it was de novo. So the next steps are 1) testing whether there is genetic material missing or extra; whether there are genes being turning on or off due to the swamp of genetic material. This could be done by array and/or FISH; 2) testing his parents, see if they have chromosome abnormality. Since the mother didn’t have spontaneous abortion, the odd that parents’ chromosome are abnormal is small.

The second patient was a 7 month old boy. He had big head, chubby face, big lower jaw and a bit scoliosis. MRI and x-ray showed some vertebra malformation. The geneticist ordered him blood and urine tests for some proteins. His DNA sample would be held in case blood test showed something abnormal. We would be surprised if his blood test showed abnormality. This case is simple. If it happened 1-2 decades ago, doctors would not think about other syndromes. It would merely be scoliosis. But now with the advancement of genetics, one symptom could only be a tip of an iceberg. We don’t want to wait until too late to diagnose and treat the patient, especially those kids when available intervention would dramatically change a patient’s condition and whole life, at least the progression of certain genetic disorders could be slowed down.

In the afternoon, I analyzed some clinical data. It is much more complicated and difficult compared to data from basic research. Basic research is usually done in an ideal condition. Thus, the data are usually consistent. Clinical data could vary widely due to the diverse manifestation of patients.  Some patients have mild symptoms while others’ could be more severe though they share the same genetic changes.

Too tired to continue.