相关实验视频

Updated: Jan 13, 2026

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

[儿科患者的偏距18q删除综合征 (18q-) ]

L B Novikova¹, N M Faizullina², A P Akopyan¹

¹Bashkir State Medical University, Ufa, Russia.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

|January 12, 2026

概括

本案例研究突出了罕见的染色体18删除,这是一种遗传的神经疾病. 早期的遗传咨询和检测对于及时诊断和对受影响婴儿进行干预至关重要.

科学领域:

遗传学遗传学是一个
神经学神经学
儿科儿科儿科

背景情况:

呈现了一种罕见遗传病理的临床病例,涉及到染色体18的删除.
这种染色体突变导致一种复杂的神经疾病,具有可变的表型和可能导致严重的先天性形.

研究的目的:

要突出染色体18删除的临床意义和诊断挑战.
强调遗传咨询和检测对于早期检测和管理的重要性.

主要方法:

临床病例的介绍.
对有关染色体18缺失和相关表型的相关文献的审查.

主要成果:

该案例说明了在产前查期间,由于这种疾病的罕见性和表型变异性,这种疾病的诊断不足.
强调需要提高医生意识,以便及时诊断和治疗.

结论:

18号染色体缺失是一种罕见但显著的疾病,需要高度的临床怀疑.
建议对患有精神语言延迟的婴儿进行遗传咨询和测试,以确定染色体疾病.

关键词:

染色体疾病是一种染色体疾病.诊断的复杂性诊断的复杂性删除了18q的部分.多形态主义的多态主义.心理语音延迟是一种心理延迟.

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

相关概念视频

Karyotyping

Karyotyping

Pharmacokinetics in Pediatric Patients: Drug Excretion

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...