Intestinal block was diagnosed in my child immediately after birth. Surgeon conducted a colostomy surgery and called the baby had Hirschsprung disease and found there were clinical symptoms of Down Syndrome. The karyotype test reported the baby had 46 XY chromosome & random chromosomal break points. When the baby was 6 months old, he got bronchiolytris which the pediatrician called is a viral infection in respiratory tract. Doctors also found low muscle tone in the baby and advised occupational therapy, speech therapy & physiotherapy. Again doctor recommended a kayotype test. This time, the test conducted at a different lab reported the baby had 47 XY & confirmed Down Syndrome (Trisomy 21). My questions are:
1) Which karyotype report is correct? Why two reports do contradict? Does the baby has Down Syndrome?
2) If the baby has Down Syndrome, how did he survive colostomy surgery when he was 2-day old only?
3) If the baby has Down Syndrome, how can we cure it? If cure is not possible, how can we ensure he will be mentally & physically as sound as an average human, fertile after puberty, and live & healthy normal life span ?
Debmalya Nandan