Results 61 to 70 of about 5,849,237 (150)

Analyzing Ocular and Systemic Findings of Patients with Down Syndrome

Southern Clinics of Istanbul Eurasia, 2019
INTRODUCTION[|]The aim of this study was to analyze the ocular and clinical findings of patients with Down syndrome.[¤]METHODS[|]A total of 72 patients, aged between 4 months and 22 years (mean: 5.5+-5.1 years), were included in the study.
Ayşin Tuba Kaplan, Ayse Yesim Oral, Nilufer Zorlutuna Kaymak, Mehmet Can Özen, Şaban Şimşek   +4 more
doaj   +1 more source

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down‐Turner Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Severe baseline developmental delays in complex genetic syndromes like Down‐Turner mosaicism can completely mask the psychomotor regression of Infantile Epileptic Spasms Syndrome (IESS). Clinicians must maintain a high index of suspicion and prioritize early video‐EEG screening for any abnormal paroxysmal movements.
Mohammad Shahrori, Khadeeja Nofal, Hasan H. Alkhawaja, Waed Mohsen, Ainaa A. Alzamari   +4 more
wiley   +1 more source

Genetic Analysis of 17q Terminal Partial Trisomy

Clinical Case Reports
Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial ...
Huiling Zheng, Lin Zheng, Zhi Huang, Guangping Li, Daili Tang, Xue Yang, Tian Tian   +6 more
doaj   +1 more source

Incomplete trisomy 15 rescue associated with hypermethylation of the Prader–Willi critical region

Taiwanese Journal of Obstetrics & Gynecology
Objectives: To present a rare prenatal case of incomplete trisomy 15 rescue with hypermethylation in the Prader–Willi critical region and to emphasize the diagnostic challenges associated with discordant results among NIPT, chromosomal microarray, and ...
Yung-Ling Tseng, Ying-Chung Chen
doaj   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Diagnostic Testing After Positive Cell‐Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Prenatal Diagnosis, Volume 46, Issue 10, Page 1529-1535, September 2026.
ABSTRACT Objective To assess socioeconomic and medical factors associated with prenatal confirmatory diagnostic testing after positive prenatal cell‐free (cfDNA) screening for sex chromosome aneuploidies (SCA) in a diverse contemporary patient cohort.
Blair K. Stevens, Sarah Araji, Mohamad Ali Maktabi, Randy Liu, Lauren Westerfield, Michael Wassef, Dejian Lai, Ignatia B. Van den Veyver, Meera Krishnan, Charlotte Lawrence, Siddharth K. Prakash   +10 more
wiley   +1 more source

Prenatal diagnosis and genetic counseling of mosaic trisomy 13

, 2012
[[abstract]]Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while ...
陳持平;Chen, Chih-Ping
core  

Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21 [PDF]

, 2013
4 pag.-4 tab.Background: It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids.
Ruíz, Rocío, Casado Moragón, Ángela, López-Fernández, M.E.   +2 more
core   +1 more source

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report

Case Reports in Genetics
Uniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities.
David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia   +4 more
doaj   +1 more source

Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis

, 2013
[[abstract]]OBJECTIVE: This study is aimed at prenatal diagnosis of mosaic trisomy 12 and reviewing the literature. MATERIALS AND METHODS: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.
陳持平;Chen, Chih-Ping;Su, Yi-Ning;Su, Yi-Ning;Su, Jun-Wei;Su, Jun-Wei;Ch, Schu-Rern;Chern, Schu-Rern;Chen, Yu-Ting;Chen, Yu-Ting;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
core