Patient's question:
On May 11th, I had an amniocentesis at Xuzhou Maternal and Child Health Hospital in Jiangsu. The results came out on May 22nd, showing 47, XXX. The doctor said that a child with this condition may have some intellectual impairments, but they are not severe. Since both my husband and I are 41 years old, it's not easy for us to get pregnant, and if we choose to terminate this pregnancy, it might be difficult for us to have children in the future. Therefore, the doctor recommended that we consult a major hospital for further advice and make a well-considered decision.Doctor's answer:
The karyotype of a normal female is (46,XX), while patients with "superfemale syndrome" mainly have three types of karyotypes: one extra X chromosome, i.e., (47,XXX), or two extra X chromosomes, i.e., (48,XXXX). In Guangdong, a female patient with as many as six X chromosomes was even discovered, with a karyotype of (50,XXXXX), which is extremely rare. As a result, some jokingly refer to women with "superfemale syndrome" as "superwomen." The incidence of "superfemale syndrome" in females is as high as 0.8 per thousand.