XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father.

XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48,XXYY chromosome pattern. 48,XXYY is one of several types of sex chromosome variations, including those that are considered as variants of Klinefelter Syndrome, 47,XXY and XXXY, XXXXY, XY/XXY and another syndrome called XYY, all of which affect males.

克氏症候群 （英語： Klinefelter's syndrome）或称 XXY 、 47XXY症候群，俗称 次雄性 症候群，是由於男性有两条或两条以上的 X染色体 所致的疾病。该疾病的主要特徵為 不育 [1]。通常症状很轻微，甚至许多患者根本不知道他们患有该病。 有些时候症状会非常显著，可能会出现肌肉虚弱、身高较矮、 运动 ...

XXYY syndrome is a rare genetic disorder. Usually, a male will have one X chromosome and one Y chromosome, but people with this disorder have two of each. They have 48 chromosomes instead of the usual 46. There are many different symptoms this disorder causes, such as mental issues and problems with the reproductive system.

大约每17000-18000个男孩中就有一个出生时就患有XXYY。 XXYY 是一种神经发育障碍。 XXYY曾被认为是克氏综合症 47,XXYY 的一种变异。 虽然这两种遗传性疾病有一些共同的症状,但研究已经确定XXYY有其独特的特点。 症状往往更多、更严重, 可能需 特殊的治疗和管理。

XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.

2025年1月7日 · 48 XXYY 核型人通常表现为男性，估计每 18000 到 40000 名男性新生儿中有 1 人核型如此。 1960 年，Sylfest Muldal 与 Charles H. Ockey 描述了一名 48 XXYY 核型的 15 岁智障男孩 [1]。

48，XXYY综合征是一种罕见的性染色体数目异常，在男性新生儿中的发病率为1/40 000～1/18 000 [1]。 多余的X染色体可导致睾丸发育不全和性腺功能低下，与克氏综合征 (47，XXY)相近，因此曾被认为是克氏综合征的一个变种。

2022年3月24日 · Learn about 48, XXYY Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources

48,XXYY型综合征是由每个男性体细胞内的两条性染色体都有一份多余的拷贝而诱发的，即患者体内有两条X染色体和两条Y染色体。 X染色体上的基因若有多余的拷贝，会影响男性的性功能发育，使得睾丸无法正常发挥功能，降低睾酮素的分泌水平。