Results 11 to 20 of about 2,524,105 (337)

Chromosomal abnormalities and autism [PDF]

open access: yesEgyptian Journal of Medical Human Genetics, 2016
Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several ...
Farida El-Baz   +5 more
doaj   +3 more sources

Additional chromosomal abnormalities in Philadelphia-positive chronic myeloid leukemia [PDF]

open access: yesHematology/Oncology and Stem Cell Therapy, 2008
BACKGROUND AND OBJECTIVE: The emergence of non-random chromosomal abnormalities is a well-rec-ognized occurrence in chronic myeloid leukemia (CML) and detection of these abnormalities is important in prognostic stratification.
Naveen Naz Syed   +3 more
doaj   +2 more sources

Chromosomal abnormalities as a cause of recurrent abortions in Egypt [PDF]

open access: yesIndian Journal of Human Genetics, 2011
BACKGROUND: In 4%-8% of couples with recurrent abortion, at least one of the partners has chromosomal abnormality. Most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities.
F. El-Dahtory
semanticscholar   +4 more sources

Chromosomal abnormalities in 457 Turkish patients with MCA/MR [PDF]

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

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

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

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

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

open access: yesGenes, 2020
There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART).
M. Viotti
semanticscholar   +1 more source

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

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