chapter 5 - chromosome abnormalities

【疾病名】染色体异常伴发的精神障碍【英文名】mental disorder due to chromosome abnormalities【缩写】【别名】【ICD号】F06.8【概述】人类常染色体异常多伴有明显的躯体畸形和严重的智能障碍。

性染色体异常则更易引发精神障碍。

性染色体异常者除具有某些躯体特征外，部分患者有轻度智能缺陷或心理、人格发育的异常，易于产生行为偏离和社会适应困难，甚至出现精神障碍。

由于这类患者的躯体征象有些并非很明显，未能引起患者或家属的注意，有时却常因精神症状而首先就诊于精神科。

包括：Klinefelter 综合征(先天性睾丸发育不全、XXY型)、Turner综合征(先天性卵巢发育不全、XO型)、超雄综合征(XYY型)、超雌综合征(X三体综合征、XXX型)。

【流行病学】染色体异常中Klinefelter综合征(先天性睾丸发育不全)是先天性睾丸发育不全或称小睾丸症是一种性染色体异常所致的疾病，本病的发生率约占男性的1/800。

患者在儿童时无任何症状，青春期后出现下述临床特征：体高、去势特征、乳房发育，喉结小，体毛稀少，大多无须，无腋毛，阴茎短，睾丸小，无精子，不育等。

其染色体核型为47，XXY(约占60%～80%)，1/3的患者为46，XY/47，XXY嵌合型。

患者的母亲生育年龄常较大。

47，XXY染色体异常在精神病患者中检出率较高，可能与长期服用精神药物有关，也有一部分是误诊。

该病患者中约有10%～34%伴有精神障碍，其临床表现常貌似精神分裂症或情感性精神病，但缺乏典型的核心症状和病程演变过程，既没有精神分裂症的进行性衰退，也没有躁狂抑郁症的循环或交替发作。

冯志颍等(1990)、邹建华等(1996)共作了16例临床报道，其主要精神障碍可归纳为3类，①类精神分裂症型，主要表现为思维松散、自言自语、乱语、哭闹、评论性幻听、被害或夸大妄想、情感淡漠、易激惹、情绪欣快、活动较多、行为怪异、赤身外跑、毁物、自知力缺乏等，但意识清。

— 435 —CHINESE JOURNAL OF ANATOMY V ol.42 No.5 2019 解剖学杂志 2019年第42卷第5期* 2018年甘肃省高校科研基金项目（2018A-144，2018A-146） 第1作者E-mail ：wmxie2014@△通信作者，E-mail ： 2531295072@收稿日期：2019-03- 27；修回日期：2019-06-26doi ： 10.3969/j.issn.1001-1633.2019.05.001·论 著·小鼠精巢生殖细胞减数分裂各时相识别*谢文美 周凤娟△ 王 强 赵小荣 朱春燕（甘肃医学院，1 遗传病研究室，2 基础医学院生物教研室，平凉 744000）摘要 目的：识别鉴定哺乳动物小鼠精巢生殖细胞减数分裂各时相细胞。

方法：结合减数分裂过程染色体变化及秋水仙素抑制纺锤体形成原理，分析观察改良制作小鼠精巢生殖细胞减数分裂染色体标本，比较各时期细胞及染色体形态变化。

结果：鉴定出小鼠减数分裂第1次分裂、第2次分裂及精子形成过程各细胞形态特征图谱，并详细解析了识别各时期细胞染色体构型变化要点，同时也简要阐述了秋水仙素的应用对识别细胞各时相染色体的影响。

结论：小鼠精巢生殖细胞减数分裂染色体变化复杂，建立完整的清晰图谱可为减数分裂课程教学及染色体异常研究提供参考。

关键词 减数分裂；秋水仙素；染色体；性泡；小鼠Identification of the meiotic events in mouse spermatogenesis *Xie Wenmei ，Zhou Fengjuan △，Wang Qiang ，Zhao Xiaorong ，Zhu Chunyan（1. Laboratory of Genetic Disease ，2. Department of Basic Medical Science ，Gansu Medical College ，Pingliang 744000，China ）Abstract Objective ：To identify the chromosomal behavior characteristics of meiotic events in mouse spermatogenesis. Methods ：The chromosome changes of the mouse germ cells in meiosis were systematically observed by modified methods of germ cells in mice based on the changes of chromosome in meiosis process and the inhibition of spindle formation by colchicine. Results ：All the morphological characteristics of cells in the first division ，second division and sperm formation of mice were established ，and the main changes of cell chromosome configuration were analyzed. The effects of colchicine on cells to identify the chromosome changes were briefly described. Conclusion ：The establishment of complete and clear cell map in meiosis in mouse spermatogenesis provides reference for the teaching of meiosis course and the study of chromosome abnormalities.Key words meiosis ；colchicine ；chromosome ；sex body ；mouse减数分裂过程中不同时相染色体变化复杂，染色体减数分裂异常也是许多人类遗传病发生的主要原因之一。

染色体核型检测和分类算法English:Chromosome karyotyping is a genetic test used to analyze the structure and number of chromosomes in a person's cells. It plays a crucial role in the diagnosis of chromosomal disorders and genetic diseases. The process involves obtaining a sample of cells, typically from blood, and stimulating them to divide in the laboratory. Then, the cells are stopped during metaphase, a stage of cell division where the chromosomes are most condensed and visible. The stained chromosomes are examined under a microscope, and an image is captured for analysis.To classify the chromosomes, several criteria are considered. These include the size, position of the centromere, and banding pattern. The size of chromosomes can vary greatly, ranging from the largest, chromosome 1, to the smallest, chromosome 22. The centromere is a specialized region that enables the separation of chromosomes during cell division. Its position can be used to categorize chromosomes into metacentric, submetacentric, acrocentric, ortelocentric types. Additionally, banding patterns, obtained through staining techniques, allow for further subcategories.Different banding techniques can be employed to enhance visualization of the chromosomes. G-banding is one of the most commonly used methods, where the chromosomes are stained with Giemsa dye and observed under a microscope. The G-banding pattern reveals distinct bands on chromosomes, which aids in their identification. Other banding methods like C-banding, R-banding, and Q-banding provide additional information about specific regions of the chromosomes, such as the centromeres or heterochromatic regions, thus facilitating their classification.Automated algorithms have been developed to assist in chromosome classification and analysis. These algorithms use image processing and pattern recognition techniques to identify and measure the characteristics of the chromosomes. They can accurately detect abnormalities, such as deletions or translocations, and provide quantitative data on chromosome size, length, and morphology. These algorithms enhance the efficiency and accuracy ofchromosome karyotyping, allowing for a quicker and more precise diagnosis of chromosomal disorders.In summary, chromosome karyotyping is a valuable genetic test that plays a crucial role in diagnosing chromosomal disorders and genetic diseases. Through the analysis and classification of stained chromosomes, important information about chromosome structure and abnormalities can be obtained. The development of automated algorithms further improves the efficiency and accuracy of this process.Chinese translation:染色体核型检测是一种用于分析人体细胞中染色体的结构和数量的基因检测方法。

如对您有帮助，可购买打赏，谢谢简析染色体异常对胎儿的影响多大导语：随着现在的年轻妈妈越来愈多，她们不懂得情况也会死越来愈多。

特别是在怀孕宝贝的时候要格外注意，有许多的禁忌一定要做到，不要因小失大。

随着现在的年轻妈妈越来愈多，她们不懂得情况也会死越来愈多。

特别是在怀孕宝贝的时候要格外注意，有许多的禁忌一定要做到，不要因小失大。

造成了宝贝出生后的许多问题，在染色体异常的时候，对孩子应该有怎样的影响呢？下面就来简析下染色体异常对胎儿的影响。

染色体是组成细胞核的基本物质，是基因的载体。

染色体异常(chromosome abnormalities)也称染色体发育不全(chromosome dysgenesis)。

美籍华人蒋有兴(1956)查明人类染色体为46条，Caspersson等(1970)首次发表人类染色体显带照片。

患儿出生时较正常新生儿的平均身长略短，随年龄增长差异愈发明显成年患者身高很少超过正常10岁儿童。

手呈短粗状，手掌宽只有一条横纹，表现为水平掌褶纹（通贯手）及其他特征性皮纹改变，如小指短而内屈呈单一褶纹（即第五指为两节），肌张力减低多数患儿3～4岁仍不会走路，婴幼儿反应迟钝或引不出进食困难患儿智力及精神发育明显异常，智商为20～70，平均40～50多在Gaussian曲线以下，90%的患儿5岁时才会说话。

大多数表现沉静、温顺、易让人接近，寿命可达40岁。

染色体异常对胎儿的影响，是巨大的，这有可能说明了以后的宝贝是否身体健康，甚至严重的是会有生命的危险，在发现这种情况的时候，需要注意听医生的话，正确治疗，然后父母应该保持一个乐观良好的心态，改变不良的习惯。

生活中的小知识分享，对您有帮助可购买打赏。