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105 relations: Acute myeloid leukemia, Amniocentesis, AMPK, Angelman syndrome, Aspirin, Autosome, Benzene, Biomarker, Cancer, Carbaryl, Carcinogenesis, Cat eye syndrome, Cell (biology), Cell cycle checkpoint, Cell division, Chorionic villus sampling, Chromosomal translocation, Chromosome, Chromosome 13, Chromosome 18, Chromosome 21, Chromosome 5q deletion syndrome, Chromosome abnormality, Chromosome instability syndrome, Chromosome segregation, Chronic lymphocytic leukemia, Colchicine, Comparative genomic hybridization, Cri du chat syndrome, CTLA-4, Deletion (genetics), DiGeorge syndrome, Disjoint sets, Distal 18q-, DNA fragmentation, Down syndrome, Edwards syndrome, Fenvalerate, Fluorescence in situ hybridization, Gamete, Genetic disorder, Genome instability, Immune checkpoint, Insecticide, Jacobsen syndrome, Karyotype, Kinetochore, Klinefelter syndrome, List of organisms by chromosome count, Medical genetics, ..., Medical Hypotheses, Meiosis, Microsatellite, Miller–Dieker syndrome, Miscarriage, Monosomy, Monosomy 9p, Mosaic (genetics), Multipolar spindles, Nondisjunction, P53, Patau syndrome, Perfluorinated compound, Pesticide, Ploidy, Polyploid, Prader–Willi syndrome, Prenatal testing, Proximal 18q-, Real-time polymerase chain reaction, Red blood cell, Resveratrol, Sex chromosome, Smith–Magenis syndrome, Spermatozoon, Spindle apparatus, Tetrasomy, Tetrasomy X, Triple test, Triple X syndrome, Trisomy, Trisomy 16, Trisomy 22, Trisomy 8, Trisomy 9, Turner syndrome, Uniparental disomy, Whole blood, Williams syndrome, Wolf–Hirschhorn syndrome, X chromosome, X-ray, XXXY syndrome, XXYY syndrome, XY sex-determination system, XYY syndrome, Y chromosome, 1p36 deletion syndrome, 1q21.1 deletion syndrome, 22q11.2 distal deletion syndrome, 22q13 deletion syndrome, 2q37 deletion syndrome, 49,XXXXX, 49,XXXXY, 9q34 deletion syndrome. Expand index (55 more) »
Acute myeloid leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cells.
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Amniocentesis
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
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AMPK
AMPK may stand for.
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Angelman syndrome
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
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Aspirin
Aspirin, also known as acetylsalicylic acid (ASA), is a medication used to treat pain, fever, or inflammation.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Benzene
Benzene is an important organic chemical compound with the chemical formula C6H6.
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Biomarker
A biomarker, or biological marker, generally refers to a measurable indicator of some biological state or condition.
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Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
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Carbaryl
Carbaryl (1-naphthyl methylcarbamate) is a chemical in the carbamate family used chiefly as an insecticide.
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Carcinogenesis
Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells.
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Cat eye syndrome
Cat eye syndrome (CES), or Schmid–Fraccaro syndrome, is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times.
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Cell (biology)
The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.
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Cell cycle checkpoint
Cell cycle checkpoints are control mechanisms in eukaryotic cells which ensure proper division of the cell.
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Cell division
Cell division is the process by which a parent cell divides into two or more daughter cells.
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Chorionic villus sampling
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
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Chromosomal translocation
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
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Chromosome
A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.
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Chromosome 13
Chromosome 13 is one of the 23 pairs of chromosomes in humans.
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Chromosome 18
Chromosome 18 is one of the 23 pairs of chromosomes in humans.
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Chromosome 21
Chromosome 21 is one of the 23 pairs of chromosomes in humans.
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Chromosome 5q deletion syndrome
Chromosome 5q deletion syndrome (chromosome 5q monosomy, 5q- syndrome) is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells.
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Chromosome abnormality
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
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Chromosome instability syndrome
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage.
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Chromosome segregation
Chromosome segregation is the process in eukaryotes by which two sister chromatids formed as a consequence of DNA replication, or paired homologous chromosomes, separate from each other and migrate to opposite poles of the nucleus.
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Chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).
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Colchicine
Colchicine is a medication most commonly used to treat gout.
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Comparative genomic hybridization
Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.
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Cri du chat syndrome
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "five P minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5.
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CTLA-4
CTLA4 or CTLA-4 (cytotoxic T-lymphocyte-associated protein 4), also known as CD152 (cluster of differentiation 152), is a protein receptor that, functioning as an immune checkpoint, downregulates immune responses.
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Deletion (genetics)
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.
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DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.
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Disjoint sets
In mathematics, two sets are said to be disjoint sets if they have no element in common.
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Distal 18q-
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.
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DNA fragmentation
DNA fragmentation is the separation or breaking of DNA strands into pieces.
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Down syndrome
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
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Edwards syndrome
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18.
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Fenvalerate
Fenvalerate is an insecticide.
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Fluorescence in situ hybridization
Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity.
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Gamete
A gamete (from Ancient Greek γαμετή gamete from gamein "to marry") is a haploid cell that fuses with another haploid cell during fertilization (conception) in organisms that sexually reproduce.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Genome instability
Genome instability (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome of a cellular lineage.
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Immune checkpoint
Immune checkpoints are regulators of the immune system.
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Insecticide
Insecticides are substances used to kill insects.
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Jacobsen syndrome
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1.
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Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
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Kinetochore
A kinetochore is a disc-shaped protein structure, found at the centromere of a chromatid, to which microtubules attach during cell division.
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Klinefelter syndrome
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
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List of organisms by chromosome count
The list of organisms by chromosome count describes ploidy or numbers of chromosomes in the cells of various plants, animals, protists, and other living organisms.
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Medical genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
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Medical Hypotheses
Medical Hypotheses is a medical journal published by Elsevier.
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Meiosis
Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.
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Microsatellite
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1–6 or more base pairs) are repeated, typically 5–50 times.
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Miller–Dieker syndrome
Miller–Dieker syndrome (abbreviated MDS), Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations.
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Miscarriage
Miscarriage, also known as spontaneous abortion and pregnancy loss, is the natural death of an embryo or fetus before it is able to survive independently.
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Monosomy
Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.
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Monosomy 9p
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9.
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Mosaic (genetics)
In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.
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Multipolar spindles
Multipolar spindles are spindle formations characteristic of cancer cells.
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Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division.
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P53
Tumor protein p53, also known as p53, cellular tumor antigen p53 (UniProt name), phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice).
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Patau syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.
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Perfluorinated compound
A perfluorinated compound (PFC) per- or polyfluoroalkyl chemical is an organofluorine compound containing only carbon-fluorine bonds (no C-H bonds) and C-C bonds but also other heteroatoms.
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Pesticide
Pesticides are substances that are meant to control pests, including weeds.
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Ploidy
Ploidy is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes.
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Polyploid
Polyploid cells and organisms are those containing more than two paired (homologous) sets of chromosomes.
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Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.
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Prenatal testing
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.
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Proximal 18q-
Proximal 18q- is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.
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Real-time polymerase chain reaction
A real-time polymerase chain reaction (Real-Time PCR), also known as quantitative polymerase chain reaction (qPCR), is a laboratory technique of molecular biology based on the polymerase chain reaction (PCR).
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Red blood cell
Red blood cells-- also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek erythros for "red" and kytos for "hollow vessel", with -cyte translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system.
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Resveratrol
Resveratrol (3,5,4′-trihydroxy-trans-stilbene) is a stilbenoid, a type of natural phenol, and a phytoalexin produced by several plants in response to injury or, when the plant is under attack by pathogens such as bacteria or fungi.
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Sex chromosome
An allosome (also referred to as a sex chromosome, heterotypical chromosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior.
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Smith–Magenis syndrome
Smith–Magenis Syndrome (SMS) has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
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Spermatozoon
A spermatozoon (pronounced, alternate spelling spermatozoön; plural spermatozoa; from σπέρμα "seed" and ζῷον "living being") is a motile sperm cell, or moving form of the haploid cell that is the male gamete.
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Spindle apparatus
In cell biology, the spindle apparatus (or mitotic spindle) refers to the cytoskeletal structure of eukaryotic cells that forms during cell division to separate sister chromatids between daughter cells.
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Tetrasomy
A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome.
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Tetrasomy X
Tetrasomy X (also called XXXX syndrome, quadruple X, or 48,XXXX) is an extremely rare chromosomal disorder caused by the presence of four X chromosomes instead of two X chromosomes.
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Triple test
The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects).
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Triple X syndrome
Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.
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Trisomy
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.
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Trisomy 16
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two.
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Trisomy 22
Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two.
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Trisomy 8
Trisomy 8, also known as Warkany syndrome 2, is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8.
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Trisomy 9
Full trisomy 9 is a lethal chromosomal disorder caused by having three copies (trisomy) of chromosome number 9.
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Turner syndrome
Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.
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Uniparental disomy
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.
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Whole blood
Whole blood (WB) is human blood from a standard blood donation.
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Williams syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body.
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Wolf–Hirschhorn syndrome
Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS) or Pitt syndrome, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 (del(4p16.3)).
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X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
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X-ray
X-rays make up X-radiation, a form of electromagnetic radiation.
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XXXY syndrome
XXXY syndrome is a genetic disorder characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes.
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XXYY syndrome
XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome.
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XY sex-determination system
The XY sex-determination system is the sex-determination system found in humans, most other mammals, some insects (Drosophila), some snakes, and some plants (Ginkgo).
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XYY syndrome
XYY syndrome is a genetic condition in which a male has an extra Y chromosome.
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Y chromosome
The Y chromosome is one of two sex chromosomes (allosomes) in mammals, including humans, and many other animals.
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1p36 deletion syndrome
1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
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1q21.1 deletion syndrome
1q21.1 deletion syndrome or 1q21.1 (recurrent) microdeletion is a rare aberration of chromosome 1.
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22q11.2 distal deletion syndrome
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22.
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22q13 deletion syndrome
22q13 deletion syndrome (spoken as twenty-two q one three, see Locus (genetics)) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22.
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2q37 deletion syndrome
2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2.2q37 deletion syndrome describes a disorder in which one or multiple of 3 sub-bands, 2q37.1, 2q37.2, and 2q37.3, of the last band of one of the chromosome 2’s long arms are deleted.
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49,XXXXX
49,XXXXX, also known as pentasomy X, is a chromosome abnormality where a female has five X chromosomes rather than the normal two.
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49,XXXXY
49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality.
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9q34 deletion syndrome
9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder.
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-somy, Aneuploid, Aneuploid cell, Aneuploidic, Aneuploidies, Autosomal Trisomy, Disomic, Disomy, Extra chromosome, Extra chromosomes, Hyperploid, Hypoploid, Monosomic, Partial disomy, Partial monosomy, Partial trisomy, Somy, Trisomy Disorders, XXXXXY.
References
[1] https://en.wikipedia.org/wiki/Aneuploidy
