【佳學(xué)基因檢測】雅各布綜合征基因解碼、基因檢測

基因解碼導(dǎo)讀：

雅各布綜合征是英文Jacob's syndrome的中文翻譯，又叫做YY綜合征、XYY-47染色體綜合征或超雄綜合征，患者染色體數(shù)為47條，性染色體為XYY，常染色體正常的疾病。XYY男性的表型是正常的，患者身材高大，常超過180cm，偶爾可見隱睪，睪丸發(fā)育不全并有精子形成障礙和生育力下降，尿道下裂等，但大多數(shù)男性可以生育。

什么樣的人應(yīng)當(dāng)做雅各布綜合征基因解碼、基因檢測？

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.

雅各布綜合征基因解碼

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.

雅各布綜合征的其他名稱

• Jacob's syndrome
• XYY karyotype
• XYY syndrome
• YY syndrome

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