混合性淋巴腺发育不良与45,X/46,X,idic(Y)/46,XY型:一个病例报告
Reshma Ammu Shetty1, Deyyanthody Prashanth Shetty1, Pooja Swaroop Kulshreshtha2
1KSHEMA Center for Genetic Services, K.S. Hegde Medical Academy, Nitte University, Karnataka, India.
Journal of reproduction & infertility
|August 19, 2024
概括
这项研究报告了一例罕见的45,X/46,XY/46,X,idic(Yp) 马赛克主义病例,该病例发生在患有混合性腺失调的男性身上. 这种染色体异常会影响性发育和成熟.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 人类发展 人类发展
背景情况:
- 混合性腺失调是一种性发育障碍.
- 马赛克主义涉及多个细胞系的存在,具有不同的染色体补充.
关键词:
亚精子缺血症 (Azoospermia) 是一种光现场混合化 (FISH) 是一种同心点Y 同心点Y型化 (Karyotyping) 是一种方法.马赛主义 (Mosaicism) 是一个教派.更多相关视频
相关概念视频
Karyotyping
Overview
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Karyotyping
Overview
The Ratio of X Chromosome to Autosomes
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...


