New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome

AbstractPhenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations.The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45,X, 45,X/46,XX and 45,X/46,X,i(Xq) or 46,X,i(Xq) karyotype.Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal.Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.

Download Full-text

Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India

Indian Pediatrics ◽

10.1007/s13312-021-2093-x ◽

2021 ◽

Vol 58 (1) ◽

pp. 34-37

Author(s):

Sunetra Mondal ◽

Rana Bhattacharjee ◽

Subhankar Chowdhury ◽

Satinath Mukhopadhyay

Keyword(s):

Turner Syndrome ◽

Single Center ◽

Eastern India ◽

Phenotype Correlation

Download Full-text

Turner Syndrome, Uncommonly Diagnosed Cause of Short Stature: Case Report and Review of Literature

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v33i1.8174 ◽

2013 ◽

Vol 33 (1) ◽

pp. 74-76

Author(s):

S Basnet ◽

A Eleena ◽

AK Sharma

Keyword(s):

Growth Hormone ◽

Short Stature ◽

Turner Syndrome ◽

Age Estimation ◽

Bone Age ◽

Review Of Literature ◽

X Ray ◽

Dysmorphic Features ◽

The Past ◽

Hormone Analysis

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76

Download Full-text

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Journal of Child Neurology ◽

10.1177/0883073818811454 ◽

2018 ◽

Vol 34 (2) ◽

pp. 86-93 ◽

Cited By ~ 2

Author(s):

John C. Herriges ◽

Ellen M. Arch ◽

Pamela A. Burgio ◽

Erin E. Baldwin ◽

Danielle LaGrave ◽

...

Keyword(s):

Intellectual Disability ◽

Learning Difficulties ◽

Growth Failure ◽

Speech Delay ◽

Review Of The Literature ◽

Phenotype Correlation ◽

Additional Insight ◽

Dysmorphic Features ◽

Phenotypic Spectrum ◽

Insight Into

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region.

Download Full-text

Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array-CGH

Prague Medical Report ◽

10.14712/23362936.2015.11 ◽

2012 ◽

Vol 113 (4) ◽

pp. 279-288

Author(s):

V. Cabras ◽

A. Milia ◽

C. Montaldo ◽

Anna Lisa Nucaro

Keyword(s):

Mental Retardation ◽

Chromosomal Aberrations ◽

Reliable Method ◽

Array Cgh ◽

Chromosomal Rearrangements ◽

Phenotype Correlation ◽

Dysmorphic Features ◽

Genome Wide ◽

Genome Array ◽

Idiopathic Mental Retardation

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

Download Full-text

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

The American Journal of Human Genetics ◽

10.1086/346118 ◽

2003 ◽

Vol 72 (2) ◽

pp. 478-487 ◽

Cited By ~ 160

Author(s):

Elfride De Baere ◽

Diane Beysen ◽

Christine Oley ◽

Birgit Lorenz ◽

Julie Cocquet ◽

...

Keyword(s):

Phenotypic Variability ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

Mutational Hotspots

Download Full-text

A new approach to urinary system dynamics problems: Evaluation and classification of uroflowmeter signals using artificial neural networks

Expert Systems with Applications ◽

10.1016/j.eswa.2008.05.051 ◽

2009 ◽

Vol 36 (3) ◽

pp. 4891-4895 ◽

Cited By ~ 7

Author(s):

Semih Altunay ◽

Ziya Telatar ◽

Osman Erogul ◽

Emin Aydur

Keyword(s):

Neural Networks ◽

Artificial Neural Networks ◽

System Dynamics ◽

Urinary System ◽

New Approach ◽

Artificial Neural ◽

Dynamics Problems

Download Full-text

Novelty Ranking Approach with Z-Score and Fuzzy Multi- Attribute Decision Making Combination

International Journal of Engineering & Technology ◽

10.14419/ijet.v7i4.7.27363 ◽

2018 ◽

Vol 7 (4.7) ◽

pp. 476

Author(s):

Basri . ◽

Syarli .

Keyword(s):

Decision Making ◽

Statistical Technique ◽

Z Score ◽

New Approach ◽

Score Method ◽

Multi Attribute Decision Making ◽

Weighted Data ◽

Hierarchy Process ◽

Better Than

This study aims to recommend a new approach in the ranking system by analyzing the combination of the Z-Score method and the Fuzzy Multi-Attribute Decision Making (FMADM) method. This fusion is based on the merging of the advantages of Z-Score and FMADM as a superiority method in statistical rank data processing with weighting data distribution. The lack of Z-Score in processing multi-attributes weighted data can be improved by the FMADM method. In this study, the integration of the Analytical Hierarchy Process (AHP) and Weighted Product (WP) methods was used as the FMADM method with the Z-Score statistical technique. The results of the analysis in the case study show that the integration of the Z-Score and AHP-Weighted Product (Z-WeP) methods can provide maximum results with similarities to the Z-Score results by 86%. Analysis of criterion values on alternatives also shows that Z-WeP can work better than some other of FMADM approaches.

Download Full-text

A unified activities-based approach to the modelling of viral epidemics and COVID-19 as an illustrative example

10.1101/2020.06.10.20127597 ◽

2020 ◽

Author(s):

Yulii D. Shikhmurzaev ◽

Vladislav D. Shikhmurzaev

Keyword(s):

Mathematical Model ◽

Mathematical Models ◽

Social Interactions ◽

Clinical Picture ◽

Simple Mathematical Model ◽

New Approach ◽

Social Distancing ◽

The Uk ◽

The Impact

AbstractA new approach to formulating mathematical models of increasing complexity to describe the dynamics of viral epidemics is proposed. The approach utilizes a map of social interactions characterizing the population and its activities and, unifying the compartmental and the stochastic viewpoints, offers a framework for incorporating both the patterns of behaviour studied by sociological surveys and the clinical picture of a particular infection, both for the virus itself and the complications it causes. The approach is illustrated by taking a simple mathematical model developed in its framework and applying it to the ongoing pandemic of SARS-CoV-2 (COVID-19), with the UK as a representative country, to assess the impact of the measures of social distancing imposed to control its course.

Download Full-text

Indications and Contraindications for Cystography, Diagnostic Value of the Method

Spravočnik vrača obŝej praktiki (Journal of Family Medicine) ◽

10.33920/med-10-2010-08 ◽

2020 ◽

pp. 54-59

Author(s):

Roman Petrovich Stepchenkov

Keyword(s):

Clinical Picture ◽

Inflammatory Diseases ◽

Diagnostic Value ◽

Diagnostic Methods ◽

General Analysis ◽

Malignant Neoplasms ◽

Urinary System ◽

Bladder Abnormalities ◽

Rupture Of The Bladder

Diseases of the urinary system are quite common, both among adults and among children. If, in case of infectious and inflammatory diseases of the urinary organs, an assessment of the clinical picture and general analysis of the urine is sufficient to make a diagnosis, in a number of other situations — trauma and rupture of the bladder, abnormalities of its development, malignant neoplasms — visualization of the organ is needed. One of these diagnostic methods is cystography.

Download Full-text