chromosomal anomaly

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Related to chromosomal anomaly: Chromosome abnormalities
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Noun1.chromosomal anomaly - 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"
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
References in periodicals archive ?
A notable exception includes when a pregnancy is "medically futile," which is when "an unborn child has a profound and irremediable congenital or chromosomal anomaly that is incompatible with sustaining life after birth."
One major anomaly may not be indicative of a chromosomal anomaly whereas association of various major and minor anomalies may indicate a chromosomal defect.
Loss of the mismatch repair system, which is required to recognize base pairing errors in DNA, is related to the chromosomal anomaly known as microsatellite instability.
Karyotyping and fetal magnetic resonance imaging (MRI) were scheduled owing to findings related to a chromosomal anomaly or a syndrome.
Objective: To determine median values of biochemical maternal serum markers during second trimester maternal screening to rule out chromosomal anomaly, Down syndrome.
Mosaic trisomy 9 syndrome is a rare chromosomal anomaly wherein the affected cases usually exhibit IUGR, micrognathia, low-set ears, rocker-bottom feet, and congenital heart anomalies.
He began by observing that while a child should not be aborted because a chromosomal anomaly is found, the fact that this may be much more common than previously thought--and is self-correcting in many instances--should be reassuring to doubting parents.
As the combination of defects is usually linked to a rare chromosomal anomaly, Faith had a one in four chance of being born with a number of other serious health complications.
This is significant: Previously, with karyotyping, we quoted patients a minimum of 1/500 risk of finding a clinically relevant chromosomal anomaly even if the combined report suggested much lower risks of Down syndrome.
Like karyotyping, which is often used when a chromosomal anomaly is suspected, microarray testing provides a look at the whole genome, but it is about 100 times more sensitive than a karyotype.
These malformations had a more severe prognosis than existing cardiac pathology and therefore were the basic indication for TOP There was a chromosomal anomaly incidence of 21.7% in our series, which is comparable to former studies (19-21).
Thus a male that shows Barr body or drumstick is considered abnormal (Berepubo, 1989; Wekhe, 1998) just as a female that does not show these nuclear projections at all would also be suspended chromosomal anomaly (Berepubo and Umanah, 1996).