相关实验视频

Updated: May 12, 2025

Chromosome Preparation From Cultured Cells

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

临床表征和细胞遗传分子研究,一个患有12环染色体的患者

Vinícius Almeida da Nóbrega¹, Gabriella Rodrigues Dos Santos², Maria Isabel Melaragno²

¹Center for Biological and Health Sciences, Federal University of Campina Grande, Campina Grande, Brazil.

Molecular syndromology

|May 7, 2025

概括

这项研究详细介绍了一名患有多种先天缺陷的儿童的罕见环形染色体12. 基因分析揭示了删除和染色体不稳定性,改善了对环染色体状况的理解.

科学领域:

遗传学是一个遗传学.
染色体异常染色体异常
儿科病例研究小儿病例研究

背景情况:

环染色体经常导致遗传物质的损失.
环染色体12 (r(12)) 是一种罕见的染色体异常.

研究的目的:

描述一个新的环状染色体12.
为了将遗传发现与患者表型相关联.
为了研究环染色体的不稳定性和马赛克主义.

主要方法:

型化和染色体微阵列分析.
在200个元相上进行G带和光现场混合 (FISH).
表型评估包括MRI.

主要成果:

一名四岁的患者出现了多种先天性异常.
核型确定证实r(12) 在两只手臂上都有缺失 (3.6 Mb在12p上,1.2 Mb在12q上).
分析显示染色体不稳定性,包括单体12和各种环形配置.

结论:

这是第一个带有删除的r(12) 的SNP数组表征.
这些发现提高了对r的遗传和表型影响的理解.
为患者预后,临床管理和遗传咨询提供了洞察力.

关键词:

咖啡牛奶的地方.染色体12是第12个染色体.形成机制的形成机制不稳定不稳定不稳定.环染色体是指环染色体中的一个.

更多相关视频

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

相关概念视频

Karyotyping

Karyotyping

Polytene Chromosomes

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...