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Updated: Jun 27, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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埃布斯坦异常-格尔博德缺陷二合体的病例报告:同一个病人身上还有另一个异常的空间吗?

Horea-Laurentiu Onea1,2, Florin-Leontin Lazar1,2, Minodora Teodoru2,3

  • 1Department of Internal Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, 5th Dept. of Internal Medicine, Medical Clinic No.1, 40006 Cluj-Napoca, Romania.

European heart journal. Case reports
|September 11, 2024
PubMed
概括

本案例研究详细介绍了一种罕见的Ebstein异常和Gerbode缺陷在成年人的组合,强调了先进的成像对于诊断复杂的先天性心脏病的重要性.

关键词:
案例报告案例报告遗传性心脏病是一种先天性心脏病.埃布斯坦的异常情况格尔博德缺陷是一个缺陷

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Pedigree Analysis01:35

Pedigree Analysis

Overview
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
General Case of Eccentric Axial Loading01:12

General Case of Eccentric Axial Loading

Unsymmetrical bending occurs when the bending moment applied to a structural member does not align with its principal axis. This misalignment leads to complex stress distributions and deflection patterns that differ from symmetrical bending, which are essential for designing structures to withstand different loading conditions.
Consider a member subjected to equal and opposite forces that are applied along a line that does not coincide with the member's neutral axis. In unsymmetrical bending,...