|
染色體出了問題 Chromosomal Problems 現代科學研究發現了大量非典型的染色體組合類型。下面描述的僅僅是這中間最要害的組合類型。通常，非典型染色體組合涉及XX或XY的非常規結合。人口中有0.5%-1.0%的發生率。
Modern research has found a number of possible atypical chromosomal conditions. The following desribes only the most important of them. As a rule, they concern deviations from the regular XX- or XY-combination. They are found in ca. 0,5 to 1 percent of the population.
|
女孩
1.
唐納氏綜合征（Turner Syndrome），既僅有單一X染色體存在，第二條不見了（X0）。表現的症狀就是以生長矮小為特徵，卵巢發育不良，缺乏月經，也不能生育。激素治療能最低程度地稍微改善體格外貌。該綜合征的發生率為每3000個活產中有一個。2. 三聯綜合征（Triple X Syndrome） (XXX),
既除了兩條常規的XX染色體之外，存在著第三條X染色體。患有該綜合征的女孩，和隨後長成的女人，在外表上會和其她女性不同。她可能生育力底下，也可能有精神症狀。該綜合征在每1000個活產中有一個發生率。
In Girls
1. The so-called Turner Syndrome, i.e. only a single X-chromosome is present, the second one is missing (X0). The condition is characterized by stunted growth, a deficient development of ovaries, absent menstruation and absent breast development as well as infertility. Hormonal treatment can at least somewhat normalize the physical appearance. The syndrome is found in one of ca. 3000 live births.
2. The Triple X Syndrome (XXX), i.e. a third X-chromosome is present in addition to the two regular ones. The girl, and later the woman, will not differ from others in her appearance. However, she is likely to be less fertile, and she may also have psychological problems. The syndrome is found in one of ca. 1000 live births.
|
In Boys
1.
（Klinefelter Syndrome）,
既，染色體組合為XXY（或非常罕見的XXXY）。患者表現為睾丸發育不良，雄性激素水準低，乳房發育，有不成比例的上下肢，不能生育和可能有漸進發展的智力缺陷。在青春期給予激素治療常常能夠發育出男性的身體特徵。該綜合征在1000個活產中會有一例。2. （XYY Syndrome），
表現為性器官畸形和生育力低下，也可能有漸進發展的智力缺陷。該綜合征在1000個活產中會有一例。
In Boys
1. The so-called Klinefelter Syndrome, i.e. the chromosomal combination XXY (or, very rarely, XXXY). It manifests itself in underdeveloped testicles, a low level of testosterone, a growth of breasts, disproportionate arms and legs, infertility and an increased likelihood of mental deficiency. Hormonal treatments in adolescence can often achieve a masculinization of the body. The syndrome is found in one of ca. 1000 live births.
2. The XYY Syndrome manifests itself in malformations of the sex organs and reduced fertility. There is also an increased likelihood of mental deficiency. The syndrome is found once in ca. 1000 live births.
|
|
|
