chromosomal aberration

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chromosomal aberration

Etymology: Gk, chroma + soma, body; L, aberrare, to wander
any change in the structure or number of any of the chromosomes of a given species. In humans, a number of physical disabilities and disorders are directly associated with aberrations of both the autosomes and the sex chromosomes, including Down, Turner's, and Klinefelter's syndromes. The incidence of most chromosomal disorders is significantly higher than that of single-gene disorders. See also trisomy.

chromosomal aberration

An abnormality in chromosomes regarding number (aneuploidy, polyploidy) or chromosomal material (translocation, deletion, duplication).
See also: aberration


emanating from or pertaining to chromosome.

chromosomal aberration
see chromosomal abnormality (below).
chromosomal abnormality
abnormal karyotype; abnormalities can be detected before birth by means of amniocentesis, or after birth, but many are probably never observed because they cause death and disposal of the fetus. The abnormalities are either of number, or of composition of the individual chromosomes. Monosomy and trisomy are examples of numerical abnormalities. Translocations are examples of abnormalities of structure where parts of one chromosome have been transferred to another. The cause of these abnormalities is not known. Their importance is that many of them are linked with structural or functional defects of the animal body. The best known ones in veterinary medicine are those that are related to infertility, e.g. translocation 1/29, translocation 27/29.
chromosomal analysis
fetal cells obtained by amniocentesis or lymphocytes from a blood sample can be cultured in the laboratory until they divide. Cell division is arrested in mid-metaphase by the drug Colcemid, a derivative of colchicine. The chromosomes can be stained by one of several techniques that produce a distinct pattern of light and dark bands along the chromosomes, and each chromosome can be recognized by its size and banding pattern. The chromosomal characteristics of an animal are referred to as its karyotype. This also refers to a photomicrograph of a cell nucleus that is cut apart and rearranged so that the individual chromosomes are in order and labeled. The autosomes are numbered roughly in order of decreasing length. The sex chromosomes are labeled X and Y. Karyotyping is useful in determining the presence of chromosome defects.
chromosomal banding
see banding (2).
chromosomal chimerism
see chimera.
chromosomal crossover
chromosomal deletion
in genetics, loss from a chromosome of genetic material.
chromosomal inversion
see inversion (2).
chromosomal linkage
see linkage (2).
chromosomal mapping
see genetic map.
chromosomal non-disjunction
failure of the chromatids or chromosomes to separate (disjoin) during meiosis.
chromosomal replication
chromosomal walking
a technique for identification and isolation of contiguous sequences of genomic DNA.
chromosomal X inactivation
only one of a pair of female (X) chromosomes in the one cell is active, the other is inactivated.
References in periodicals archive ?
We need to address each couple individually because there are couples whose specific chromosome abnormalities increase the likelihood of their pregnancy being unbalanced.
Our clinical data continues to demonstrate that we are the first non-invasive prenatal test that can provide expectant parents with accurate results across multiple chromosomes, including detection of sex chromosome abnormalities, as early as nine weeks of pregnancy," said Matthew Rabinowitz, Ph.
Other chromosome abnormalities, such as unbalanced translocations and markers, are no more likely to occur in women of advanced maternal age.
The optional test expansion launched today includes the detection for Turner syndrome (Monosomy X), Triple X (XXX), Klinefelter syndrome (XXY) and Jacob's syndrome (XYY), the most common fetal sex chromosome abnormalities.
CGH to BAC is a technique that emerged from the Human Genome Project, and it holds much promise for both prenatal and postnatal characterization of very small and subtle chromosome abnormalities.
OncoChip technology offered by PerkinElmer's Signature Genomics Laboratories quickly identifies chromosome abnormalities to aid in cancer patient diagnosis and prognosis
About the verifi prenatal test The verifi prenatal test is a blood test that analyzes genetic material (or DNA) naturally found in a pregnant woman's blood to detect the most common fetal chromosome abnormalities.
It's important that patients are made aware of a growing concern that there is an increased incidence of inherited chromosome abnormalities, particularly sex chromosome abnormalities, in offspring conceived with ICSI, he said at a conference on obstetrics, gynecology, perinatal medicine, neonatology, and the law.
GSN's proprietary Parental Support[TM] technology is the first to leverage data informatics to deliver highly accurate single cell testing for chromosome abnormalities and genetic diseases.
a privately-held company dedicated to maternal and fetal health, today announced that it is expanding the verifi prenatal test capabilities to include detection of the most common sex chromosome abnormalities.
In the most recent survey of amniocentesis results, 679 chromosome abnormalities were identified in 28,690 pregnancies (2.

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