2024年10月29日 · One extra copy of the X sex chromosome in each cell (XXY), the most common cause. An extra X sex chromosome in some of the cells. This is called mosaic Klinefelter syndrome and may result in fewer symptoms. More than one extra copy of the X sex chromosome, which is rare and results in a severe form of the syndrome.

常见染色体核型为：47，XXY， 嵌合型：46，XY/47，XXY。 其原因是精子或卵子在生长发育过程中，X染色体不分离所致。 克氏综合征患者由于存在一条额外的X染色体，往往存在男性 性腺功能低下 、雄激素不足、 生精功能受损 等问题。 克氏综合征的临床表现有哪些？ 克氏综合征的患者在青春期前没有明显的表现。 进入青春期后，会显露出一些病态，外观是男性，第二性征也有不同程度的发育，有的有少许阴毛及胡须，喉结小或者没有，发音尖，但通常睾丸小而质地硬，精 …

Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).

除了正常的XX和XY，性染色体也有可能表现为 XYY、XXY、XXX、X 或 XXYY 等各种核型。 少了条X染色体的女性，称为 Turner综合征，核型为（45,XO）。 X染色体缺失或异常，将会引起单倍剂量不足，导致性腺不发育。 患者身材矮小，身高一般不超过150厘米。 因性腺发育不全，患者第二性征亦发育不良，外生殖器为女性幼稚型，闭经、不孕。 而Klinefelter综合征，则多了一条X（或多条X）的男性，一般核型为（47，XXY）。 在医学上，这也称为“ 先天性睾丸发育不全综合 …

2024年10月28日 · Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY,...

Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life. The XXY condition that causes Klinefelter syndrome can't be changed, but medical treatment and working with therapists can help a boy's development and lessen the condition's effects.

Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects male development. The signs and symptoms of Klinefelter syndrome vary. In some cases, the features are so mild that the condition is not diagnosed until puberty or adulthood.

2025年3月4日 · XXY syndrome also known as Klinefelter syndrome, is a genetic condition characterized by the presence of an extra X chromosome (47, XXY). Klinefelter syndrome occurs in approximately 1 in 500 to 1,000 males in the United States.

2025年1月7日 · 众所周知，XXY是克氏综合征，XYY是超雄综合征。 克氏综合征是卵细胞在减数分裂的过程中产生异常，超雄则恰恰相反。 那有没有可能存在一个同时患有克氏综合… 当然有。 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]。 那之后数十年间，有更多相关研究，例如： 48 XXYY 核型人通常不会被医学描述为这问题谈论 …

XXY occurs when a male has an extra X chromosome in some or all cells of his body. About 1 out of every 660 males is born with XXY, and there about 300,000 with this condition in the U.S. (Aksglaede et al., 2013; Bojeson et al, 2003). The genes on the extra X chromosome can impact growth and development.