chromosomal aberration

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chromosomal aberration

An abnormality in chromosomes regarding number (aneuploidy, polyploidy) or chromosomal material (translocation, deletion, duplication).
See also: aberration
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References in periodicals archive ?
Therefore, a maternal chromosome abnormality may be detected using this testing and incorrectly attributed to the fetus, particularly in the case of sex chromosome abnormalities. Second, if the pregnancy started as a twin gestation and one fetus undergoes demise, it is not possible to determine if the DNA fragments analyzed are from the ongoing pregnancy or the demised (vanishing) twin, resulting in a false positive test.
Other chromosome abnormalities, such as unbalanced translocations and markers, are no more likely to occur in women of advanced maternal age.
The more recent study likely had higher rate of detected abnormalities in part because of changes in maternal serum screening practice and improvement in ultrasound sensitivity for structural birth defects associated with chromosome abnormalities. These changes may have meant that fewer pregnancies involving abnormal fetuses underwent amniocentesis, Dr.
In another study in Germany on 781 infertile couples, the rate of chromosomal aberrations was only 1.9% for the male subjects including sex chromosome abnormalities (0.6%) (8).
It may also be a result of the increased incidence of sex chromosome abnormalities caused by meiotic errors in subfertile men with a high frequency of disomic sperm, he said.
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. BAC clones are very similar to FISH probes, and there are approximately 10,000 well-characterized BAC clones that can be used to compare karyotypes from normal individuals with those from individuals with a wide range of genetic anomalies.
Sex chromosome abnormalities that are common among infertile men are thought to be passed along to ICSI offspring, especially to male babies, said Michael McClure, Ph.D., chief of the reproductive sciences branch at the National Institute of Child Health and Human Development, Bethesda, Md.
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.
The more recent study likely had a higher rate of detected abnormalities in part because of changes in maternal serum screening practice and improvement in ultrasound sensitivity for structural birth defects associated with chromosome abnormalities. These changes may have meant that fewer pregnancies involving abnormal fetuses underwent amniocentesis, Dr.
They found 13 cases of chromosome abnormalities: 7 sex chromosome abnormalities, 3 had autosomal aneuploidy, and 3 had structural abnormalities.
Increased numbers of DNA-damaged spermatozoa in samples presenting an elevated rate of numerical chromosome abnormalities. Hum Reprod.

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