Deletions fragments abnormalities chromosome pairing. Medical search. Frequent questions

The PGT study makes it possible to select those embryos that have not inherited any of the abnormalities in the karyotype. (reproclinic.com)
However, Karyotype is for major abnormalities of chromosomes. (freezingblue.com)
By characterizing the normal karyotype, the chromosomal abnormalities such as deletion, duplication, translocation, non-disjunctions and the consequent aneuploids could be detected. (smartindia.net.in)

Cancer cells on the other hand often have abnormal numbers of chromosomes and/or deletion or duplication of large DNA regions. (ukbiobank.ac.uk)
Duplication- A chromosome gets duplicated, bringing to more genetic material. (onphospitals.com)
The methods used in multigene panels may include sequence analysis , deletion/duplication analysis , and/or other non-sequencing-based tests. (nih.gov)
Both detects duplication, deletion, and rearrangement of chromosomes. (freezingblue.com)
Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)
However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
SANCO test detects trisomies and monosomies of all 23 chromosome pairs as well as deletion and duplication syndromes of at least 7 million base pairs. (sancotest.pl)
The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)

Translocation- A chromosomal fragment gets moved to the other. (onphospitals.com)
This might be the Robertsonian rearrangement, where a chromosome connects to the other, or a reciprocal translocation, in which two chromosomes get exchanged. (onphospitals.com)
To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)

We have used comparative genomic hybridisation to analyse 19 constitutional chromosome abnormalities detected by G band analysis, including seven deletions, five supernumerary marker chromosomes, two interstitial duplications, and five chromosomes presenting with abnormal terminal banding patterns. (bmj.com)
The test is primarily used to detect aneuploidies - where an abnormal number of chromosomes is present in each cell - specifically the trisomies that cause Down's(21), Edwards'(18) and Patau's(13) syndromes. (healthchecks360.com)
Abnormal number or structure of chromosomes. (lookformedical.com)

Bryndorf et al 2 applied CGH to the study of unbalanced karyotypes in prenatal cases, including seven cases of unbalanced structural abnormalities and four cases of simple aneuploidies. (bmj.com)
Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)
Most types of sex chromosome aneuploidies have a mild disease course, without intellectual development disorders, some of which may lead to infertility or learning problems. (sancotest.pl)
NIPT also offers optional testing for other genetic conditions such as deletion syndromes and sex chromosome aneuploidies. (healthchecks360.com)

examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)

Chromosomes remain significant because they include genes that define one's bodily features, blood group, and even risk to specific diseases. (onphospitals.com)
The X chromosome conducts most tasks by itself among men, while the Y chromosome contains few active genes. (onphospitals.com)
A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
Genes are often referred to as the "blueprints" for the body and they come packaged in structures called chromosomes. (chdcarecompass.com)
The genes in our chromosomes are responsible for telling our early embryonic cells how to grow, divide, and eventually form a human body. (chdcarecompass.com)
Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
12- 17 However, there is still further allelic heterogeneity within this region as there are additional XLMR families published that map to Xq28 with a significant lod score but do not have abnormalities in any of these genes. (bmj.com)

However, in recent studies, 9q34 deletion syndrome occurs when the EHMT1 gene is non-functioning, as opposed to strictly deletion. (wikipedia.org)
They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
Moreover, CATSA identified a novel deletion (chr16:171262-202032) in the α-globin gene cluster. (bvsalud.org)
Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA). (bvsalud.org)
Genomic and cDNA sequence alignments as well as chromosome localization using nullisomic-tetrasomic lines provided strong evidence for three expressed gene copies located on homoeolog chromosomes for TaSK1 as well as for TaSK2 . (biomedcentral.com)

Mitosis occurs whenever a cell with 46 chromosomes divides into two. (onphospitals.com)
A chromosomal abnormality occurs when mitosis and meiosis produce a different proportion of chromosomes as anticipated. (onphospitals.com)
As each chromosome contains a single centromere, it remains unclear how acentric fragments derived from shattered chromosomes are inherited between daughter cells during mitosis 6 . (nature.com)
Here we tracked micronucleated chromosomes with live-cell imaging and show that acentric fragments cluster in close spatial proximity throughout mitosis for asymmetric inheritance by a single daughter cell. (nature.com)
Here we show that pulverized chromosomes from micronuclei spatially cluster throughout mitosis and identify the CIP2A-TOPBP1 complex as an essential regulator of this process. (nature.com)
The karyological studies are usually made during mitosis, though the chromosome structure and details can also be best done in meiotic preparations. (smartindia.net.in)
Mitosis also reveals the replicated chromosomes viz. (smartindia.net.in)

Structural abnormalities occur in approximately 3% of live births, and congenital abnormalities account for 20-25% of perinatal deaths. (medscape.com)
Autosomal trisomy is frequently associated with severe congenital abnormalities, mental retardation and shortened life expectancy. (wikidoc.org)

A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)

The term numerical relates to the concept when there are fewer chromosomes than predicted, there might be greater or fewer. (onphospitals.com)
By looking at the proportions of fragments it is possible to determine if they come from a person with the standard complement of 46 chromosomes, or if there are more or fewer chromosomes. (healthchecks360.com)

The variant analysis revealed over 3.6 million single nucleotide variants and 5 46 681 small insertions and deletions including about 2.7 % of novel (unreported) variants. (ijpsonline.com)
PG2 integrates genome and transcriptome sequencing to incorporate protein variants containing amino acid substitutions, insertions, and deletions, as well as non-canonical reading frames, exons, and other variants caused by genomic and transcriptomic variation. (biorxiv.org)

FISH is a screening test that uses multicolour probes or comparative genomic hybridization to find any chromosome irregularities in a genome. (wikipedia.org)
We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. (biomedcentral.com)
The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)
CGH involves hybridizing reference and testing DNA samples onto chromosome or microarray slides with DNA probes representing all regions of the genome, then comparing their fluorescence intensity ratio. (ablogwithadifference.com)
There are 46 chromosomes in the human genome what makes up 23 pairs. (sancotest.pl)
May 21, 2021 All mutations that change the total number of chromosomes are considered to be genome mutations. (ps3magic.de)

Inversion - A chromosomal fragment splits off and flips upside down before reattaching to the main structure. (onphospitals.com)
These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)

Array-based comparative genomic hybridization (aCGH) tracks chromosome deletions and or amplifications using fluorescent dyes on genomic sequences of DNA samples. (wikipedia.org)
From the sequencing of the pre-treatment sample and the reconstructed genomic profile we will identify and characterise patient specific chromosome abnormalities that will be tracked in follow up samples. (ukbiobank.ac.uk)
We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases. (elsevierpure.com)
Although the structural chromosome abnormalities in these cases were too small to identify the origin of the extra genomic material based on banding pattern, none of the abnormalities described by these authors can be considered to be subtle or cryptic. (bmj.com)
Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)

Aneuploidy of other chromosomes can occur, but is usually associated with an early miscarriage. (healthchecks360.com)
Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder . (wikidoc.org)
Aneuploidy of sex chromosomes can also occur. (wikidoc.org)

Exactly a century ago, in the book, Zur Frage der Entstehung Maligner Tumoren , Boveri presented his theory on cancer that was based on chromosomal abnormality ( 4 - 6 ). (jcancer.org)
Certain variables may raise the likelihood of something like a chromosomal abnormality. (onphospitals.com)

Constitutional chromosome studies involving conventional GTG band cytogenetic analysis, however, often show unbalanced karyotypes which cannot be fully defined because the extra material is too small to have a recognisable banding pattern. (bmj.com)
Others have applied CGH to the study of constitutional chromosome abnormalities detected postnatally. (bmj.com)

We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)
Sequencing of daughter cell pairs derived from micronucleated mother cells demonstrated that complex rearrangements are indeed a common outcome of micronucleus formation. (nature.com)
These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
For example, most human tissues in healthy individuals acquire somatic nucleotide substitutions, insertions, deletions and DNA rearrangements, leading to the production of variant protein isoforms. (biorxiv.org)

Ring- A circle or loop forms when a piece of one chromosome rips off. (onphospitals.com)
A piece of one chromosome is transferred to a nonhomologous chromosome. (bio-rad.com)

In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
Monosomy is the presence of only one chromosome from a pair in a cell's nucleus . (wikidoc.org)
Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies. (wikidoc.org)
The presence of extra X chromosome(s) causes Klinefelter syndrome in men and Triple X syndrome in women, while monosomy X (45, X) gives rise to women with Turner syndrome. (wikidoc.org)

Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
or other CHROMOSOME BREAKAGE related aberrations. (lookformedical.com)

Derivative chromosomes are indicated with arrows. (schleiden-eifel.de)

Trisomies of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome) are the most frequent syndromes of congenital malformations caused by the presence of additional copy of chromosome. (sancotest.pl)
Trisomies of chromosomes with other numbers cause severe fetal malformations, leading in most cases to miscarriages in the first trimester of pregnancy. (sancotest.pl)
Most trisomies, like most other abnormalities in chromosome number, result in distinctive and serious birth defects. (wikidoc.org)

The DNA samples (which are 25-80 base pairs in length) are then placed on slides to be observed under microscope. (wikipedia.org)
Single or multiple base-pairs are incorporated or deleted from a DNA sequence. (bio-rad.com)
Its length is believed to be a few hundred base pairs. (lookformedical.com)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)

On the other hand, aCGH showed novel chromosome abnormalities (+2p and del5q) potentially associated with disease progression. (elsevierpure.com)

In humans and animals, GSK-3/SGG are key regulators of a broad range of signaling pathways and their dysregulation responsible for a number of diseases or developmental abnormalities, both aspects abundantly documented in the literature. (biomedcentral.com)

Jan 1, 2018 · Chromosomal abnormalities usually occurs during S-phase (synthesis phase) of cell cycle in which DNA synthesis takes place. (schleiden-eifel.de)
In other children, CHD occurs with other anatomic differences - this is called "syndromic" abnormality. (chdcarecompass.com)
Trisomy is a medical term used when an additional chromosome in a cell occurs. (sancotest.pl)
When the presence of chromosomal abnormalities occurs differentially within an individual, it is called chromosomal mosaicism . (wikidoc.org)
Full trisomy of an individual occurs due to non-disjunction during meiosis I or meiosis II of gametogenesis resulting in 24 vice 23 chromosomes in a reproductive cell (sperm or egg). (wikidoc.org)
A partial trisomy occurs when part of an extra chromosome is attached to one of the other chromosomes, or if one of the chromosomes has two copies of part of its chromosome. (wikidoc.org)

Checks the embryos for the right number of chromosomes. (reproclinic.com)
All chromosome pairs do not produce viable embryos when one of its chromosomes is absent at the time of development. (onphospitals.com)
Genetic testing plays an integral part in evaluating prenatal as well as reproductive health, providing early identification of genetic disorders or abnormalities within embryos or fetuses, helping inform decisions around family planning decisions as well as diagnosis of prenatal issues early and treating genetic conditions with treatment plans tailored for each pregnancy or gestation. (ablogwithadifference.com)

J. Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). (schleiden-eifel.de)
Mitotic clustering drives the unequal inheritance of acentric fragments by a single daughter cell, providing an explanation for the origins of distinct patterns of chromothripsis found across diverse cancer types and congenital disorders. (nature.com)
Disorders of the number of sex chromosomes refer to the occurrence of an incorrect number (greater or smaller) of X or Y sex chromosomes. (sancotest.pl)
Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)

The precept of microarray era is based totally at the complementary base pairing between fragments of DNA and mRNA or among DNA strands. (popstaffnx.info)

CGH has been widely applied to detect gains and losses of DNA sequences on specific chromosomes in the study of solid tumours, 1 but has not been extensively used to study unbalanced constitutional karyotypes. (bmj.com)

The results reported here add valuable information to the still fragmented molecular basis of ET to sAML evolution. (elsevierpure.com)
Chromosomal identification of marker chromosomes and extra bands on chromosomes through molecular techniques is always of clinical interest. (bmj.com)
Telomeres are protective molecular caps at the ends of chromosomes. (ps3magic.de)

CGH was successful in elucidating the origin of extra chromosomal material in 10 out of 11 non-mosaic cases, and permitted further characterisation of all of the deletions that could be detected by GTG banding. (bmj.com)
CGH appears to be a useful adjunct tool for either confirming deletions or defining their breakpoints and for determining the origin of extra chromosomal material, even in cases where abnormalities are judged to be subtle. (bmj.com)
3 4 In all of these cases, CGH was successfully used to determine the origin of extra chromosomal material or to confirm a deletion. (bmj.com)

Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. (wikipedia.org)
GroupD : These are medium sized chromosomes with nearly (acrocentric) terminal centromeres. (smartindia.net.in)

A nucleus has always been located in the center of every cell, while chromosomes are present within the nucleus. (onphospitals.com)
Inactivation of CIP2A-TOPBP1 caused acentric fragments to disperse throughout the mitotic cytoplasm, stochastically partition into the nucleus of both daughter cells and aberrantly misaccumulate as cytoplasmic DNA. (nature.com)
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)

In general, as we would expect, individuals who are mosaic for a chromosome change tend to have a less severe form of the syndrome present than full trisomy individuals. (wikidoc.org)

Replication studies in the mother and daughter showed a skewed X inactivation pattern in lymphocytes, with the normal X chromosome preferentially inactivated. (bmj.com)

9q34 deletion syndrome is a rare genetic disorder. (wikipedia.org)
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. (wikipedia.org)
A study published by the American Journal of Human Genetics performed an EHMT1 mutation analysis on 23 patients that showed symptoms of 9q34 deletion syndrome. (wikipedia.org)
An abnormality can result in the embryo being unable to implant in the mother's womb or unable to grow (miscarriage or non-developing pregnancy), or being born with Edwards Syndrome or Down Syndrome. (reproclinic.com)
The most common is Down Syndrome, where an extra of chromosome 21 is present. (onphospitals.com)
In consecutive, unselected MCA/MR patients karyotyping enables the detection of pathogenic chromosomal abnormalities in about 4% of cases (excluding Down syndrome), despite its limited resolution to about 5-10 Mb. (biomedcentral.com)
An additional copy of chromosome 21, causes Down syndrome, which is the most common trisomy and the most common genetic disability. (sancotest.pl)
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. (ps3magic.de)
The most common forms of autosomal trisomy are trisomy of chromosome 21 which results in Down syndrome and trisomy of chromosome 18 which results in Edwards syndrome . (wikidoc.org)

Mechanistically, the CIP2A-TOPBP1 complex prematurely associates with DNA lesions within ruptured micronuclei during interphase, which poises pulverized chromosomes for clustering upon mitotic entry. (nature.com)
Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)

Humans usually have 23 pairs of chromosomes. (chdcarecompass.com)

This is due to the fetus having three, rather than two, copies of chromosome 21. (healthchecks360.com)
This is due to the fetus having three, rather than the normal two, copies of chromosome 18. (healthchecks360.com)
Uniparental disomy , the disomy refers to two copies of the chromosome from one of the parents (with no contribution from the other parent). (wikidoc.org)
A tetrasomy and a pentasomy are the presence of a respectively four or five copies of a chromosome. (wikidoc.org)

Chromosome mutations are alterations occurring in chromosomes that typically result from errors during nuclear division or from mutagens. (ps3magic.de)

Direct sequencing revealed a few homoplasmic base pair insertions, deletions, and substitutions in the tumor cells mainly in regions of mononucleotide repeats. (biomedcentral.com)

This includes both karyotyping of banded chromosomes and, since the nineties of the last century, also fluorescence in situ hybridization (FISH). (biomedcentral.com)
The summation of all such characters, which identify a set of chromosomes is called karyotyping. (smartindia.net.in)

what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
A trisomy is the presence of three, instead of the normal two, chromosomes of a particular numbered type in an organism. (wikidoc.org)

The mitochondrial haplogroup (L3e2b1a1) is indicative of maternal ancestors' arrival to the Indian subcontinent about 70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less than 25 000 y ago. (ijpsonline.com)
Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)

where in the plasmid is the DNA fragment inserted? (freezingblue.com)

MLPA can be used to detect tumours in the glial cells of the brain, as well as chromosomal abnormalities. (wikipedia.org)
Normal, healthy human cells typically comprise a set of 23 pairs of chromosomes. (ukbiobank.ac.uk)
The stochastic inheritance of chromosome fragments by both newly formed daughter cells could in part contribute to the alternating DNA copy-number states that are characteristic of chromothripsis 2 . (nature.com)
It is present in bacterial cells alongside their main chromosomes. (smartindia.net.in)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)

Typically, site-directed mutagenesis is used to create mutant control samples by introducing mutations into some DNA fragments. (bio-rad.com)
Possible types of mutations in chromosomes include Deletion When a segment of DNA is lost, so there is a missing segment in the chromosome. (ps3magic.de)

Thus the presence of an extra chromosome 21 is called trisomy 21. (wikidoc.org)

50% of a human's chromosomes come from the mother's eggs and the other part from the sperm of the father. (onphospitals.com)
NIPT examines the small fragments of DNA - known as cell free DNA (cfDNA), that float in the mother's blood. (healthchecks360.com)

A trisomy can occur with any chromosome. (wikidoc.org)

it allows mapping and visualization, making this technique ideal for the diagnosis of genetic anomalies such as abnormalities or changes to chromosomes as well as oncology screening or prenatal detection. (ablogwithadifference.com)

Two of them have chromosomal abnormalities, and both acquire 2p gain and 5q deletion at sAML stage. (elsevierpure.com)

5.Describe the classification of 23 pairs of chromosomes in human? (smartindia.net.in)

Anatomy62

Organisms7

Diseases28

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Psychiatry and Psychology1

Phenomena and Processes163

Disciplines and Occupations1

Information Science4

Karyotype3

Duplication8

Translocation3

Abnormal3

Aneuploidies4

Duplications1

Genes9

Gene8

Mitosis7

Congenital abnormalities2

Section of a chromosome1

Fewer chromosomes2

Insertions and deletions2

Genome6

Inversion2

Genomic5

Aneuploidy3

Chromosomal abnormality2

Constitutional chromosome2

Rearrangements4

Piece of one chromosome2

Monosomy4

Aberrations5

Derivative1

Trisomies3

Base pairs3

Diploid cell1

ACGH1

Developmental abnormalities1

Occurs6

Embryos3

Disorders4

Complementary base1

Sequences1

Molecular3

Extra chromosomal material3

Terminal2

Nucleus3

Severe1

Lymphocytes1

Syndrome9

Mitotic2

Humans1

Copies4

Alterations1

Substitutions1

Karyotyping2

Organism3

Mitochondrial3

Plasmid1

Cells5

Mutations2

Trisomy 211

Mother's2

Occur1

Prenatal1

Acquire1

Human1