性染色体三症体内心理病理的年龄相关差异
Melissa R Roybal1, Siyuan Liu1, Isabella G Larsen1
1National Institutes of Health, National Institute of Mental Health, Bethesda, MD, United States.
medRxiv : the preprint server for health sciences
|November 28, 2024
概括
性染色体三症 (SCTs) 显示与年龄相关的精神病理增加,特别是在XYY综合征中出现的社会问题. 这凸显了对遗传性疾病进行个性化监测和干预的需要.
科学领域:
- 遗传学和发育心理学
- 神经发育障碍 神经发育障碍
背景情况:
- 性染色体三症 (SCTs) 包括诸如三症 X,克莱因费尔特综合征 (XXY) 和雅各布综合征 (XYY) 这样的疾病.
- 现有的研究将SCT与增加的精神病理风险联系在一起,但与年龄相关的变化和型特异性差异需要进一步调查.
研究的目的:
- 为了研究不同SCT karyotypes (XXX,XXY,XYY) 和对照组的心理病理学与年龄相关的变化.
- 为了检查儿童行为检查清单 (CBCL) 评估的精神病理学子域如何随着年龄的不同而变化.
主要方法:
- 使用儿童行为检查清单 (CBCL) 来评估横截面样本中的精神病理.
- 分析了201名SCT患者和304名euploidic对照者的数据,年龄在5-18岁之间.
主要成果:
- 在SCTs中,精神病理的升高与年龄有显著的关联,因型和CBCL尺度而异.
- 特别是在XYY综合征患者中观察到与年龄相关的社会问题明显增加.
- 对于其他CBCL域或SCT kariotypes,没有发现与年龄相关的显著精神病理变异.
结论:
- 研究结果支持个性化临床评估和监测SCT患者.
- 确定了SCT中精神病理学的特定风险窗口,特别是XYY中的社会问题,用于有针对性的干预和进一步研究.
相关概念视频
Sex-linked Disorders
100.5K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
100.5K
X-linked Traits
53.6K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
53.6K
X and Y Chromosomes
22.2K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
22.2K
The Ratio of X Chromosome to Autosomes
8.4K
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...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.4K
Human Genetics
535
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
535
The Y Chromosome Determines Maleness
6.5K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.5K


