Results 21 to 30 of about 125,822 (294)

Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples [PDF]

open access: yesBalkan Journal of Medical Genetics, 2023
Chromosomal abnormalities are the most common causes of early pregnancy losses (EPLs). In this study, we aimed to evaluate the incidence and spectrum of chromosomal abnormalities in EPLs and correlate them with different clinical characteristics.
Bozhinovski Gj   +6 more
doaj   +2 more sources

Chromosomal abnormalities in 457 Turkish patients with MCA/MR

open access: yesThe Turkish Journal of Pediatrics, 2006
The evaluation of multiple congenital abnormalities and/or mental retardation (MCA/MR) is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield.
Figen Celep   +2 more
doaj   +2 more sources

Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays

open access: yesFrontiers in Genetics, 2022
Sex chromosomal abnormalities are associated with multiple defects. However, the types of sex chromosomal abnormalities during pregnancy in Fujian Province, China, are not recorded.
Haiwei Wang   +5 more
doaj   +1 more source

Rare chromosomal abnormalities: Can they be identified using conventional first trimester combined screening methods?

open access: yesEuropean Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2021
Objective: To evaluate the performance of first trimester combined screening for the detection of rare chromosomal abnormalities, other than Trisomies 21, 18 or 13 or 45 × . Study design: A database containing 36,254 pregnancies was analyzed.
Daniel Kane   +2 more
doaj   +1 more source

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2016
Introduction: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality.
Sunil Kumar Polipalli   +6 more
doaj   +1 more source

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

open access: yesBMC Pregnancy and Childbirth, 2021
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen   +8 more
doaj   +1 more source

Chromosomal abnormalities and schizophrenia [PDF]

open access: yesAmerican Journal of Medical Genetics, 2000
Schizophrenia is a common and serious psychiatric illness with strong evidence for genetic causation, but no specific loci yet identified. Chromosomal abnormalities associated with schizophrenia may help to understand the genetic complexity of the illness.
A S, Bassett, E W, Chow, R, Weksberg
openaire   +2 more sources

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

open access: yesJournal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

open access: yesFrontiers in Molecular Biosciences, 2021
Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome.
Meiying Cai   +3 more
doaj   +1 more source

Chromosome abnormalities in neuroblastoma [PDF]

open access: yesJournal of Clinical Pathology, 1965
The case is briefly reported of a 7-month-old boy with a disseminated neuroblastoma, whose marrow showed neuroblastoma rosettes and on direct examination on two occasions revealed a high proportion of cells with 48 chromosomes forming an abnormal cell line.
D J, BREWSTER, J V, GARRETT
openaire   +2 more sources

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