Novel disease‐causing variants and phenotypic features of X‐linked megalocornea

2021 ◽  
Author(s):  
Lubica Dudakova ◽  
Stephen Tuft ◽  
Sek‐Shir Cheong ◽  
Pavlina Skalicka ◽  
Jana Jedlickova ◽  
...  
Keyword(s):  
Phenotypic Features

Prenatal diagnosis of rare form chromosomal pathology: double aneuploidy

2019 ◽  
Author(s):  
L.A. Khlevnaya, S.A. Malova, L.I. Mitusova
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Manifestation ◽  
Rare Form ◽  
Chromosomal Disease ◽  
Phenotypic Features ◽  
Double Aneuploidy

The article represents the double aneuploidy, a rare form of chromosome pathology. 6 cases of double aneuploidy were diagnosed prenatally and 1 case was diagnosed postnatal. A variety of ultrasound signs is shown in this chromosomal pathology. The prevalence of phenotypic features of the chromosomal disease, which has the greatest clinical manifestation, was noted.

A Case of Mosaicism with Fragile-X and XXY Components

1987 ◽  
Vol 150 (5) ◽  
pp. 700-702 ◽  
Author(s):  
Saumitra Deb ◽  
Valerie A. Cowie ◽  
Carol Timberlake
Keyword(s):  
Cell Lines ◽  
Fragile Site ◽  
Fragile X ◽  
Chromosomal Mosaicism ◽  
Mentally Handicapped ◽  
Phenotypic Features

The case of a 63-year-old severely mentally handicapped man is reported with chromosomal mosaicism. His karyotype was established as mosaic 46XY/47XXY with the fragile site present in a proportion of cells of both cell-lines. He showed phenotypic features which could be related both to the fragile-X and Klinefelter's syndromes.

scholarly journals Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations

Ophthalmology ◽  
2019 ◽  
Vol 126 (11) ◽  
pp. 1557-1566 ◽  
Author(s):  
Koji M. Nishiguchi ◽  
Yasuhiro Ikeda ◽  
Kosuke Fujita ◽  
Hiroshi Kunikata ◽  
Makoto Akiho ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Oguchi Disease ◽  
Phenotypic Features

scholarly journals Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Danqing Xu ◽  
Chen Wang ◽  
Atlas Khan ◽  
Ning Shang ◽  
Zihuai He ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Disease Risk ◽  
Association Studies ◽  
Large Datasets ◽  
Risk Scores ◽  
Sequencing Data ◽  
Case Definitions ◽  
Phenotypic Data ◽  
Clinical Risk ◽  
Phenotypic Features

AbstractLabeling clinical data from electronic health records (EHR) in health systems requires extensive knowledge of human expert, and painstaking review by clinicians. Furthermore, existing phenotyping algorithms are not uniformly applied across large datasets and can suffer from inconsistencies in case definitions across different algorithms. We describe here quantitative disease risk scores based on almost unsupervised methods that require minimal input from clinicians, can be applied to large datasets, and alleviate some of the main weaknesses of existing phenotyping algorithms. We show applications to phenotypic data on approximately 100,000 individuals in eMERGE, and focus on several complex diseases, including Chronic Kidney Disease, Coronary Artery Disease, Type 2 Diabetes, Heart Failure, and a few others. We demonstrate that relative to existing approaches, the proposed methods have higher prediction accuracy, can better identify phenotypic features relevant to the disease under consideration, can perform better at clinical risk stratification, and can identify undiagnosed cases based on phenotypic features available in the EHR. Using genetic data from the eMERGE-seq panel that includes sequencing data for 109 genes on 21,363 individuals from multiple ethnicities, we also show how the new quantitative disease risk scores help improve the power of genetic association studies relative to the standard use of disease phenotypes. The results demonstrate the effectiveness of quantitative disease risk scores derived from rich phenotypic EHR databases to provide a more meaningful characterization of clinical risk for diseases of interest beyond the prevalent binary (case-control) classification.

scholarly journals Bohring-Opitz syndrome (BOS) with a newASXL1pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

2015 ◽  
Vol 167 (12) ◽  
pp. 3161-3166 ◽  
Author(s):  
Silvana Beatriz Dangiolo ◽  
Ashley Wilson ◽  
Vaidehi Jobanputra ◽  
Kwame Anyane-Yeboa
Keyword(s):  
Opitz Syndrome ◽  
Phenotypic Features
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