Abstract
The steady progress of medical science has made successful scientific approaches to various serious and strange diseases. One of the problems of primary concern today is the influence of an abnormal sex chromosome on a human body. In the field of obstetrics and gynecology, the abnormal sex chromosome is studied as a possible cause of malformation, sterility and miscarriage and an ever-increasing importance is being placed on the examination of the sex chromosome. We have come across a case in which a patient found Triple-X so-called Superfemale by accident during the routine medical examination gave birth to a normal girl, and wish to report it with some discussions.
The patient was a woman who had her first childbirth at the age of 26-years-old. When she was 25-years-old, she had throbbing and short breath and went to a certain hospital where her case was diagnosed as aortic stenosis. She was hospitalized and received close examination. She was determined as a case of Triple-X syndrome (47 XXX) in which there were combined a variety of congenital diseases, such as a webbed neck, low hair line, horizontal nystagmus, cataracta, a shortened thumb, small jaw and mental retardation. Triple-X syndrome is also called superfemale. She was warned of the necessity of careful consideration before marriage and childbirth in view of the large possibility that she might give birth to a baby having an abnormal chromosome.
In spite of the warning she was married to a man who was 23-years-old, and became pregnant after she had her last period for seven days from February 25, 1973. She had already been pregnant for three months when she came to this hospital. She delivered however, a normal girl weighing 2, 700 g. on December 3, 1973. The chromosomes of her baby, husband, parents and brethrens were inspected and all found normal.
The present case was a woman having a Triple-X chromosome and married to a man having a normal XY chromosome. It is theoretically possible that one of two babies of such a couple may present a case of Klinefelter syndrome if it is a boy, or a case of superfemale if a girl. Therefore, the present case in which a healthy baby was born has been quite fortunate, but may still present a difficult problem in this woman's further pregnancy and childbirth.
