chromosomal aberration

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Noun1.chromosomal aberration - any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities
aberrance, aberrancy, aberration, deviance - a state or condition markedly different from the norm
monosomy - chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
trisomy - chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
sex-linked disorder - any disease or abnormality that is determined by the sex hormones; "hemophilia is determined by a gene defect on an X chromosome"
References in periodicals archive ?
Majority of B cell ALL have cytogenetic abnormalities and cytogenetic analyses have revealed a great number of non-random chromosome abnormalities.
These diagnostic landmarks brought about significant changes in perceptions, attitudes and diagnosis of Down syndrome and other fetal chromosome abnormalities, which was reinforced by the introduction of obstetric ultrasound in the 1970s.
Ring chromosomes are rare structural chromosome abnormalities that can occur in all human chromosomes.
Illumina's Verifi platform utilises massively parallel sequencing technology to screen for trisomies 13, 18, 21 and sex chromosome abnormalities, with the option to screen for 5 microdeletions including 22q11.
A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women has moved a step closer to use in the general pregnancy population.
This allows for the analysis of the cell in the embryo for chromosome abnormalities.
Objective: An increase in the age of onset of child-bearing increases in developed countries is leading to an increased incidence of chromosome abnormalities arising in defective meiosis.
However, another study has indicated the presence of insufficient data regarding the PGD role in improvements of the live birth rate in carriers of structural chromosome abnormalities (17).
Approximately, half of miscarriages in the first trimester are caused by fetal chromosomal abnormalities, especially numerical chromosome abnormalities.
Summary of literature pertaining to sperm retrieval in patients with autosomal and sex chromosome abnormalities Study Age Year Karyotype abnormality Autosomal chromosome abnormality Current case 42 2015 46,XY,t(4;8)(q31.
In many clinical cases, a karyotype analysis is used to rule out chromosome abnormalities as the possible cause of a disease [15].
For instance, cfDNA testing does not detect many other chromosome abnormalities.

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