性染色体有缺陷也能过正常人生活
路透社纽约健康消息 最近一期《医学遗传学》杂志发表的研究报告显示，有性染色体异常(SCA)的男女也能够完成高中学业，做全职工作甚至结婚和生小孩。这一发现与六、七十年代报告相反，当时认为患有性染色体异常的男女都会有异常行为的倾向，并且他们常常会因此被送入监狱或精神病院。
正常人有两条性染色体，男性是XY，女性为XX，这两条性染色体分别来自父亲和母亲。但有一些人的性染色体数量发生异常，按异常的严重程度可分类不同的类型。举例说，若一个男性有一条多余的X染色体，即XXY，那么他就患有先天性睾丸发育不全综合征，这种综合征最常的后果是不育；而有额外的X染色体的异常女孩却常常没有毛病。睾酮疗法可以治疗先天性睾丸发育不全综合征除不育以外的其它症状，如乳房发育或肌肉质量减少。
研究员对35位已知患有各种类型性染色体异常疾病的男女进行了持续36年的追踪，并与16位与性染色体异常病人有兄弟姐妹关系的正常人进行比较。结果发现，有性染色体异常病人所受教育程度要低于正常人，性染色体异常组中有27人完成了中学阶段的学习，12个继续升读大学至毕业；在事业方面，性染色体异常组的成就也较低，29个位性染色体异常病人有全职工作；婚姻方面，性染色体异常组有22人结了婚，9人离了婚，11人有了小孩。
, 百拇医药
根据这一研究结果，美国国家犹太医学研究中心和丹佛科罗拉多大学研究中心的布鲁斯·G·奔得认为，尽管大部份的人都这样一种感觉，即一个染色体异常的人出现精神上的迟钝并且需要公共机构照料，但事实上很多性染色体异常的病人是过着一种相对正常的生活。他相信，这是到目前为止全球唯一一项从出生到成年一直追踪一组性染色体异常病人的研究。过去大多数研究都是针对那些已经在临床上被确认为有问题的性染色体异常病人，因此有很严重的选择误差，这也可以解释为什么这一组性染色体异常病人看起来比其它一些研究报告的性染色体异常病人正常。
早期的文献认为性染色体异常病人有较高的变态心理和机能障碍发生率。该研究发现，尽管性染色体异常病人成年后认知和心理社会能力较低，但他们的总体适应性却是可以肯定的。
来源：《医学遗传学》2001;3:187-191
Many with Sex Chromosome Flaws Lead Normal Lives
, 百拇医药
NEW YORK (Reuters Health) - Men and women with sex chromosome abnormalities (SCA) are able to complete high school, hold full-time jobs, marry and have children, according to a new report.
The present findings are contrary to reports in the 1960s and 1970s that claimed that men and women with SCAs were likely to have behavioral problems leading to time in prison or mental institutions.
Normally, a person has two sex chromosomes, one from each parent. Males have an X and a Y chromosome, while females have two Xs. But sometimes a person has an abnormal number of sex chromosomes, which can result in various disorders that range in severity.
, 百拇医药
For instance, males may have an extra X chromosome, which causes a condition called Klinefelter‘s syndrome. The most common consequence of this syndrome is infertility. Testosterone therapy can treat other symptoms such as breast development or decreased muscle mass. An anomaly in which girls carry an extra X chromosome often creates no problems.
``There are a large number of people with sex chromosomal abnormalities leading relatively normal lives,‘‘ lead author Bruce G. Bender of the National Jewish Medical and Research Center and University of Colorado in Denver, told Reuters Health.
, 百拇医药
``I believe most people have the perception that a chromosomal abnormality leads to mental retardation and institutionalization,‘‘ he added.
In the study, which is published in the May/June issue of the journal Genetics in Medicine, the researchers evaluated 35 men and women who were known to have various SCAs. The researchers followed the study participants for 36 years and compared them with 16 normal individuals who had a sibling with SCA.
, 百拇医药
In general, people with SCAs had lower levels of educational achievement when compared with those who did not have the chromosomal abnormalities. Nevertheless, 27 individuals in the SCA group completed high school and 12 went on to graduate from college. Those in the SCA group also had lower levels of career success, the study indicates--29 SCA individuals were reported to have a full-time job.
In addition, 22 members of the study group were married, 9 were divorced and 11 had children, the report indicates.
, 百拇医药
``No other study in the world has followed a group of people with SCAs from birth into adulthood,‘‘ Bender told Reuters Health.
``Most studies are of people who were identified to have a clinical problem, hence there is significant selection bias. Not so here, which may explain why this group seems less impaired than those reported in some other studies,‘‘ Bender added.
``While the SCA adults demonstrated lower levels of cognitive and psychosocial competence, their overall adaptation has been positive, particularly given an early literature suggesting a high rate of psychopathology and severe dysfunction,‘‘ the authors conclude.
SOURCE: Genetics in Medicine 2001;3:187-191., 百拇医药
正常人有两条性染色体，男性是XY，女性为XX，这两条性染色体分别来自父亲和母亲。但有一些人的性染色体数量发生异常，按异常的严重程度可分类不同的类型。举例说，若一个男性有一条多余的X染色体，即XXY，那么他就患有先天性睾丸发育不全综合征，这种综合征最常的后果是不育；而有额外的X染色体的异常女孩却常常没有毛病。睾酮疗法可以治疗先天性睾丸发育不全综合征除不育以外的其它症状，如乳房发育或肌肉质量减少。
研究员对35位已知患有各种类型性染色体异常疾病的男女进行了持续36年的追踪，并与16位与性染色体异常病人有兄弟姐妹关系的正常人进行比较。结果发现，有性染色体异常病人所受教育程度要低于正常人，性染色体异常组中有27人完成了中学阶段的学习，12个继续升读大学至毕业；在事业方面，性染色体异常组的成就也较低，29个位性染色体异常病人有全职工作；婚姻方面，性染色体异常组有22人结了婚，9人离了婚，11人有了小孩。
, 百拇医药
根据这一研究结果，美国国家犹太医学研究中心和丹佛科罗拉多大学研究中心的布鲁斯·G·奔得认为，尽管大部份的人都这样一种感觉，即一个染色体异常的人出现精神上的迟钝并且需要公共机构照料，但事实上很多性染色体异常的病人是过着一种相对正常的生活。他相信，这是到目前为止全球唯一一项从出生到成年一直追踪一组性染色体异常病人的研究。过去大多数研究都是针对那些已经在临床上被确认为有问题的性染色体异常病人，因此有很严重的选择误差，这也可以解释为什么这一组性染色体异常病人看起来比其它一些研究报告的性染色体异常病人正常。
早期的文献认为性染色体异常病人有较高的变态心理和机能障碍发生率。该研究发现，尽管性染色体异常病人成年后认知和心理社会能力较低，但他们的总体适应性却是可以肯定的。
来源：《医学遗传学》2001;3:187-191
Many with Sex Chromosome Flaws Lead Normal Lives
, 百拇医药
NEW YORK (Reuters Health) - Men and women with sex chromosome abnormalities (SCA) are able to complete high school, hold full-time jobs, marry and have children, according to a new report.
The present findings are contrary to reports in the 1960s and 1970s that claimed that men and women with SCAs were likely to have behavioral problems leading to time in prison or mental institutions.
Normally, a person has two sex chromosomes, one from each parent. Males have an X and a Y chromosome, while females have two Xs. But sometimes a person has an abnormal number of sex chromosomes, which can result in various disorders that range in severity.
, 百拇医药
For instance, males may have an extra X chromosome, which causes a condition called Klinefelter‘s syndrome. The most common consequence of this syndrome is infertility. Testosterone therapy can treat other symptoms such as breast development or decreased muscle mass. An anomaly in which girls carry an extra X chromosome often creates no problems.
``There are a large number of people with sex chromosomal abnormalities leading relatively normal lives,‘‘ lead author Bruce G. Bender of the National Jewish Medical and Research Center and University of Colorado in Denver, told Reuters Health.
, 百拇医药
``I believe most people have the perception that a chromosomal abnormality leads to mental retardation and institutionalization,‘‘ he added.
In the study, which is published in the May/June issue of the journal Genetics in Medicine, the researchers evaluated 35 men and women who were known to have various SCAs. The researchers followed the study participants for 36 years and compared them with 16 normal individuals who had a sibling with SCA.
, 百拇医药
In general, people with SCAs had lower levels of educational achievement when compared with those who did not have the chromosomal abnormalities. Nevertheless, 27 individuals in the SCA group completed high school and 12 went on to graduate from college. Those in the SCA group also had lower levels of career success, the study indicates--29 SCA individuals were reported to have a full-time job.
In addition, 22 members of the study group were married, 9 were divorced and 11 had children, the report indicates.
, 百拇医药
``No other study in the world has followed a group of people with SCAs from birth into adulthood,‘‘ Bender told Reuters Health.
``Most studies are of people who were identified to have a clinical problem, hence there is significant selection bias. Not so here, which may explain why this group seems less impaired than those reported in some other studies,‘‘ Bender added.
``While the SCA adults demonstrated lower levels of cognitive and psychosocial competence, their overall adaptation has been positive, particularly given an early literature suggesting a high rate of psychopathology and severe dysfunction,‘‘ the authors conclude.
SOURCE: Genetics in Medicine 2001;3:187-191., 百拇医药