aneuploidy


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Related to aneuploidy: aneuploidy screening, Turner syndrome

aneuploidy

 [an″u-ploi´de]
the state of having chromosomes in a number that is not an exact multiple of the haploid number. adj., adj an´euploid.

an·eu·ploi·d·y

(an'yū-ploy'dē),
State of being aneuploid.

aneuploidy

/an·eu·ploi·dy/ (an″u-ploi´de) any deviation from an exact multiple of the haploid number of chromosomes, whether fewer or more.

aneuploidy

[an′yoo͡ploi′dē]
any variation in chromosome number that involves individual chromosomes rather than entire sets of chromosomes. There may be fewer chromosomes, as in Turner's syndrome (one X chromosome in females), or more chromosomes, as in Down syndrome (three copies of chromosome 21). Such individuals have various abnormal physiological and morphological traits. Compare euploidy. See also chromosomal aberration, monosomy, trisomy.

an·eu·ploi·d·y

(an'yū-ploy'dē)
State of being aneuploid.

aneuploidy

An abnormality in the number of CHROMOSOMES by loss or duplication. The number may be smaller or greater than the normal diploid constitution. The loss of a whole chromosome is lethal. A chromosome extra to one of the pairs is called TRISOMY. Trisomy 21, for instance, causes DOWN'S SYNDROME. DNA aneuploidy refers to abnormal quantities of DNA in a nucleus. See also MOSAICISM.

aneuploidy

a condition where more or less than a complete set of chromosomes is found in each cell of an individual. Compare EUPLOIDY. Typically aneuploids have one extra or one missing chromosome. For example, in DOWN'S SYNDROME affected individuals have three number-21 chromosomes rather than the normal two, a condition known as TRISOMY. see CHROMOSOMAL MUTATION.

chromosome 

One of the thread-like structures located within the cell nucleus composed of an extremely long, double-stranded DNA (deoxyribonucleic acid) helix tightly folded around proteins called histones. Each chromosome carries genes that contain the hereditary material that controls the growth and characteristics of the body. There are 46 chromosomes in each human somatic cell organized in 23 pairs, of which 22 pairs are similar in appearance but differ at the molecular level. They are called autosomal chromosomes or autosomes and are designated by a number (with chromosome 1 being the longest, followed by chromosome 2, etc.). The other pair, the sex chromosomes determines the sex of the individual. In mammals the two sex chromosomes of females are alike (homologous) and are referred to as X chromosomes. Males carry one X chromosome along with a much shorter chromosome, the Y chromosome. Each chromosome has a centromere that divides it into two arms, the short arm 'p' and the long arm 'q'. Disorders of chromosome number in which the number of chromosomes is above or below the normal (46) are called aneuploidy. Common forms of aneuploidy are trisomy in which there is one extra chromosome and monosomy in which there is one less, than the normal 46. They rarely cause specific eye diseases but affected individuals present ocular manifestations. Examples: Down's syndrome (trisomy of chromosome 21), Edwards' syndrome (trisomy 18), Turner's syndrome (monosomy 45 XO). There are other chromosome abnormalities such as translocation (one segment of a chromosome is transferred to another chromosome) as may occur in congenital anterior polar cataract, deletion (a loss of a piece of chromosome) as in aniridia, choroideremia, retinoblastoma, etc. Other cases involve damage of a chromosome (e.g. fragile X syndrome). See defective colour vision; gene; mitosis; mutation.

aneuploidy

the state of having chromosomes in a number that is not an exact multiple of the haploid number; seen in karyotypes which have a small number of extra chromosomes or have a small number less than normal.
References in periodicals archive ?
The most common indication for prenatal invasive procedures was abnormal results of aneuploidy screening for trisomy 21, followed by maternal age, and fetal structural abnormality.
The performance of targeted paralog sequencing for fetal aneuploidy detection was evaluated in 768 maternal cfDNA samples with available genome-wide sequencing results.
In the one case that screened positive on NIPT and was confirmed as trisomy 13 on karyotyping, aneuploidy was suspected based on the first-trimester ultrasound findings, calling into question the value of cfDNA screening in cases with obvious abnormalities on ultrasound.
North America held largest share in the global market of cell-free fetal DNA testing followed by Europe, Japan and Asia Pacific owing to high occurrence of several diseases and increasing number of aneuploidies, great advancement in field of aneuploidy screening and developed healthcare infrastructure.
For an in-depth look at cell-free DNA screening, see the article entitled, "Cell-free DNA screening for women at low risk for fetal aneuploidy," by Mary E.
3-6) However until 2015, practice guidelines from the American Congress of Obstetricians and Gynecologists (ACOG) recommended that standard aneuploidy screening or diagnostic testing be offered to all pregnant women and cfDNA be reserved for women with pregnancies at high risk for aneuploidy (strength of recommendation: B).
The most frequent aneuploidy was trisomy 16 (121/310), followed by trisomy 22.
Trisomy 13 is a common condition of aneuploidy worldwide.
Here, we report the development of a platform that rapidly and comprehensively interrogates the landscape of environmental chemicals for potential effects on germline function, induction of aneuploidy, and prediction of mammalian reproductive deficits.
History of miscarriage and increased incidence of fetal aneuploidy in subsequent pregnancy.
The intercellular genomic variations that have probably the most appreciable impact on brain development and neurogenesis are related to aneuploidy or gain/loss of whole chromosomes.
One key component is chromosomal count: When a new cell acquires extra chromosomes or loses chromosomes - known as aneuploidy - the regulation of important biological processes can be disrupted, a key characteristic of many invasive cancers.