相关实验视频

Updated: Jan 8, 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

16p13.11删除/重复:关于产前诊断,产后结果和表型表现的大型队列研究

Xianglian Tang^1,2, Jiasun Su³, Wei Li¹

¹Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China.

BMC pregnancy and childbirth

|December 23, 2025

概括

这项研究扩大了对东亚人16p13.11删除/重复综合征的理解,确定了关键的超声波标记物,并改善了胎儿预后. 发现了诸如免疫疾病之类的新现象,有助于遗传咨询.

科学领域:

遗传学是一个遗传学.
产前诊断在产前诊断
临床的表型化临床的表型化

背景情况:

16p13.11 删除/重复综合征在产前诊断方面是一个挑战.
了解它在东亚人群中的频谱对于准确的遗传咨询至关重要.

研究的目的:

扩大16p13.11删除/重复综合征的临床表型谱.
提高对东亚人产前超声波表现和胎儿预后的理解.
识别新的超声波软标记物和相关的表型.

主要方法:

对201个胎儿进行了全面的超声波表型分析.
血统分析和长期产后后果跟踪.
在14名患者的染色体微阵列分析.

主要成果:

识别了检测率,新发病频率和异常的出生后表型删除和重复率.
发育迟缓是最常见的异常;免疫障碍和其他新相关.
隔离的胸膜囊和加厚的部透光被确定为分别是删除和重复的特定超声波标记. 心血管和尿路形是常见的结构异常.

结论:

一个大型的东亚产前队列增强了对16p13.11删除/重复综合征的遗传咨询.
有助于改善胎儿预后和发育潜力的预测.
精确识别超声波标记器有助于早期检测和管理.

关键词:

16p13.11删除/重复的情况遗传咨询遗传咨询遗传咨询不完全的透率.产后结果的后续跟踪产前诊断在产前诊断.可变的表达性变量.

更多相关视频

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

相关概念视频

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Karyotyping

Karyotyping

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Pedigree Analysis

Pedigree Analysis