【佳学基因检测】XYY-47染色体综合征基因解码、基因检测
基因解码导读:
XYY-47染色体综合征是英文47,XY syndrome的XYY综合征、YY综合征或超雄综合征,患者染色体数为47条,性染色体为XYY,常染色体正常的疾病。XYY男性的表型是正常的,患者身材高大,常超过180cm,偶尔可见隐睾,睾丸发育不全并有精子形成障碍和生育力下降,尿道下裂等,但大多数男性可以生育。男性患者出现生殖器异常,膝盖缺失或者发育不良,脸部特征明显,身体其他部位也有异常现象。患者常规智力天赋低下。这一疾病又被称为杨-辛普森综合征, SBSS综合征。
什么样的人应当做XYY-47染色体综合征基因解码、基因检测?
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.
47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Other possible signs and symptoms include delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), seizures, asthma, flat feet (pes planus), fifth fingers that curve inward (clinodactyly) and abnormal side-to-side curvature of the spine (scoliosis). These characteristics vary widely among affected boys and men.
Males with 47,XYY syndrome have an increased risk of behavioral, social, and emotional difficulties compared with their unaffected peers. These problems include attention deficit hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder, which is a group of developmental conditions that affect communication and social interaction.
XYY-47染色体综合征综合征基因解码
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY) in each cell.
47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. As a result of the extra Y chromosome, each cell has a total of 47 chromosomes instead of the usual 46. It is unclear why an extra copy of the Y chromosome is associated with tall stature, learning problems, and other features in some boys and men.
Some males with 47,XYY syndrome have an extra Y chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY mosaicism.
XYY-47染色体综合征的其他名称
- Jacob's syndrome
- XYY karyotype
- XYY syndrome
- YY syndrome
在哪做XYY-47染色体综合征基因解码、基因检测?
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