Ah! None of the boys born in our family can survive.
Xiao Zhang, a 30-year-old mother in Yangzhou, was pregnant for more than four months.
When recently arrived at the hospital for maternity examination,
This is an unintentional statement.
The doctor was in a cold sweat!
It turned out that this was Xiao Zhangs third child.
She gave birth to a boy a few years ago.
But at the age of four, he died of illness.
This is the sixth man to die in their family.
What on earth is this?
Men in a family inheritance do not live long
Xiao Zhang lives in the countryside of Yangzhou. She always has a magic spell in her family. From the generation of mothers she knew, every boy born soon lived. I didnt know when I was a kid, but I heard that I had two uncles before when I was an adult. Xiao Zhang said that one of his mothers brothers and one of his brothers died when they were young. In fact, Xiao Zhangs mother also gave birth to two boys, who died ten months after birth.
My sister, who gave birth to a son a few years ago, did not survive. Xiao Zhang said that his son died of illness when he was four years old. Xiao Zhang couldnt figure out why his family was like this. In the village, their family was always looked down upon by others. Few neighbours would like to come and go with their family, saying that her family might be evil.
Some time ago, Xiao Zhang was pregnant again. This is my third child. After losing his son in pain, Xiao Zhang gave birth to a lively and lovely daughter. This third pregnancy, when she went to Yangzhou Maternal and Child Health Hospital for maternity examination, she inadvertently mentioned the family experience to the doctor.
Gene testing in patients with self-destructive facial syndrome
Although it is not clear what ailments Xiao Zhangs family suffered from, we are sure that this is a hereditary disease, not amagic spellorevil in the middle. Hu Suweiyin, director of Yangzhou Medical Heredity Center, thought it was a rare hereditary disease. First, he consulted a lot of data. Then, Xiaozhang underwent amniocentesis and DNA detection.
Hu Suwei was particularly surprised by the results of the examination. The Xiaozhang family suffered from a very rare disease. This disease has only been seen in textbooks and has never been seen in clinical practice. Hu Suwei said that this is the first case found in Yangzhou at present. It is estimated that it is very rare in the whole province and even in the whole country. Some information has been inquired, and only a few documents have been recorded abroad.
The name of the disease is self-destructive facial syndrome, a neurological disorder caused by genetic mutations. Children born with cerebral palsy, self-mutilation, inability to walk and other symptoms, and unable to control their own behavior. The disease spreads from male to female. All the cases are boys. Girls can carry the disease gene but not the disease. Because the disease gene exists on the X chromosome. Males have only one X chromosome, while females have two X chromosomes. If one X chromosome is out of order, the other is normal, so the disease will not occur, while males have only one X chromosome. So, men have only one X chromosome. Once the chromosome changes, the disease will occur.
Looking back on his sons symptoms, Shortly after the birth of the child, we found that the child may have intellectual problems, and when he grows teeth, he will often bite himself blurred. Xiao Zhang recalls that his son was very fond of biting his lips and fingers, and often attacked people, I was hit by his head several times. Xiao Zhang said that later the child died of kidney failure at the age of four.
There is no cure for the disease at present.
Why does the patient suffer from this disease? Doctor analysis is due to a genetic defect in an enzyme (hypoxanthine-guanine phosphoribosyltransferase) in the body. Usually, these symptoms begin to appear in boys at the age of 2 or 3. The initial manifestation is to bite the lip or tongue. With the development of the disease, they will bite their fingers uncontrollably. They may also bite others, and they will destroy their clothes. With the increase of age, gout nodules will also appear, affecting normal joint activity, and even walking difficulties.
Hu Suwei said that at present, there is no better treatment for this disease, only some drugs can be used to alleviate the damage caused by increased uric acid, while there is no treatment for brain nerve damage, only hope for future medical development.
Source: Responsible Editor of Modern Express: Xun Jianguo_NN7379