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唐氏综合症和Klinefelter综合征有什么区别

2022年7月1日发表Dr.Samanthi

Thekey differencebetween Down syndrome and Klinefelter syndromeis that down syndrome is an autosomal abnormality that is accompanied by mental retardation andhypotonia, while Klinefelter syndrome is a性染色体异常,伴随着男性身体和认知发展的问题。

A三体is a type of polysomy in which there are three chromosomes instead of the usual pair of chromosomes. It is a type of aneuploidy. There are mainly two types of trisomy: autosomal trisomy (Down syndrome, Edwards syndrome, Patau syndrome, Warkany syndrome) and sex chromosomal trisomy; (triple X syndrome, Klinefelter syndrome). Down syndrome and Klinefelter syndrome are two types of trisomy conditions.

内容

1.Overview and Key Difference
2.What is Down Syndrome
3.什么是Klinefelter综合征
4.Similarities – Down Syndrome and Klinefelter Syndrome
5。Down Syndrome vs Klinefelter Syndrome in Tabular Form
6。摘要 - 唐氏综合症与KlineFelter综合征

什么是唐氏综合症?

Down syndrome is a genetic disorder caused due to abnormalcell division,这导致染色体21的额外或部分副本。这种额外的遗传物质会导致唐氏综合症障碍的发育变化和物理特征。唐氏综合症的症状和特征包括智力和发育问题,认知障碍,脸部扁平,头部小,颈部短,舌头突出,向上倾斜的眼睑,异常形状或小耳朵,肌肉不良,肌肉张力,宽阔,短双手,单个折痕在手掌中,手指相对较短,手和脚,柔韧性过多,眼睛的彩色部分上的白色斑点和短高。

Down Syndrome vs Klinefelter Syndrome in Tabular Form

图01:唐氏综合症

Down syndrome can be diagnosed through blood tests, nuchal translucency tests, chorionic villus sampling (CVS), amniocentesis, ultrasounds, percutaneous umbilical blood sampling, and preimplantation genetic testing. There is no specific treatment for Down syndrome. However, the management options include physical, occupational, and speech therapy, specialized education services, social and recreation activities, programs that offer job training, and teaching self-care skills.

什么是Klinefelter综合征?

Klinefelter syndrome is a genetic condition that results when a male has an extra copy of the X chromosome, and it is categorized under sex chromosomal trisomy. It is a type of aneuploidy condition. The extra chromosome in the Klinefelter syndrome is because of nondisjunction during gametogenesis. Klinefelter syndrome affects males, and it is not often diagnosed until adulthood.

唐氏综合症和Klinefelter综合征 - 并排比较

图02:KlineFelter综合征

Signs and symptoms of Klinefelter Syndrome vary by age. Babies show signs and symptoms like weak muscles, slow motor development, delay in speaking, and testicles that have not descended into the scrotum. Children and teenagers have symptoms like taller than average stature, longer legs, shorter torso, and broader hips compared to other boys, absent or delayed puberty, after puberty less muscle and less facial, body hair, small testicles, small penis, enlarged breast tissue, weak bones, low energy levels, tendency to be shy and sensitive, difficulty expressing thoughts and feelings, and problems with reading, writing, spelling, and math. The signs and symptoms of men include low sperm count, small testicles and penis, low sex drive, taller than average height, weak bones, decreased body and facial hair, less muscular compared with other men, enlarged breast tissue, and increased belly fat.

用于诊断KlineFelter综合征的主要测试是激素测试,染色体分析和产前筛查血液检查。此外,KlineFelter综合征的治疗选择包括睾丸激素替代疗法,乳房组织清除,言语和物理疗法,教育进化和支持,生育治疗以及心理咨询。

What are the Similarities Between Down Syndrome and Klinefelter Syndrome?

  • Down syndrome and Klinefelter syndrome are two types of trisomy conditions.
  • 两者都是在非整倍性下分类的遗传疾病。
  • 这两种疾病都是由于非分离。
  • They may have cognitive impairments.
  • They can be diagnosed through chromosomal analysis.
  • They can be treated through physical and developmental therapies.

唐氏综合症和Klinefelter综合征有什么区别?

Down syndrome is an autosomal abnormality characterized by mental retardation and hypotonia, while Klinefelter syndrome is a sex chromosome abnormality characterized by problems in male physical and cognitive development. This is the key difference between Down syndrome and Klinefelter syndrome.

下表总结了唐氏综合症和KlineFelter综合征之间的差异。

摘要 - 唐氏综合症与KlineFelter综合征

Down syndrome and Klinefelter syndrome are two genetic disorders that are due to an aneuploidy condition called trisomy. Down syndrome is an autosomal abnormality that causes mental retardation and hypotonia. Klinefelter syndrome is a sex chromosome abnormality that causes problems in male physical and cognitive development. This is the key difference between Down syndrome and Klinefelter syndrome.

Reference:

1.“”Down Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research.
2.沃森,斯蒂芬妮。“Klinefelter综合征:症状,原因,治疗等等.” Healthline, Healthline Media.

Image Courtesy:

1.“”Down syndrome lg“ 经过Centers for Disease Control and Prevention,国家缺陷和发育障碍国家中心 - (公共领域)通过CONSONS WIKIMEDIA
2. “Klinefelter’s Syndrome XXY DNA”由CAT〜Commonswiki假定 - 没有提供机器可读的来源。假设自己的工作(基于版权索赔)。(CC BY-SA 3.0)通过Commons Wikimedia

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Filed Under:疾病

关于the Author:Dr.Samanthi

Samanthi Udayangani博士拥有B.Sc.植物科学学位,硕士在分子和应用微生物学和应用微生物学中的博士学位。她的研究兴趣包括生物肥料,植物 - 微生物相互作用,分子微生物学,土壤真菌和真菌生态学。

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