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41 relations: Allele, Aneuploidy, Cancer, Chromosomal translocation, Chromosome, Chromosome 1, Chromosome 13, Chromosome 17, Chromosome 21, DNA, Dominance (genetics), Down syndrome, Gene dosage, Genetic disorder, Giemsa stain, Homologous chromosome, Human, Human genome, Karyotype, Klinefelter syndrome, Mendelian inheritance, Metaphase, Nondisjunction, Patau syndrome, Phenotype, Ploidy, Prometaphase, Pseudoautosomal region, Schizophrenia, Sex chromosome, SOX9, Testis-determining factor, Tetrasomy X, Triple X syndrome, X chromosome, XXYY syndrome, XY sex-determination system, XYY syndrome, Y chromosome, Zygosity, 49,XXXXX.
Allele
An allele is a variant form of a given gene.
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Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.
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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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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 1
Chromosome 1 is the designation for the largest human chromosome.
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Chromosome 13
Chromosome 13 is one of the 23 pairs of chromosomes in humans.
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Chromosome 17
Chromosome 17 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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DNA
Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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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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Gene dosage
Gene dosage is the number of copies of a particular gene present in a genome.
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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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Giemsa stain
Giemsa stain, named after German chemist and bacteriologist Gustav Giemsa, is used in cytogenetics and for the histopathological diagnosis of malaria and other parasites.
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Homologous chromosome
A couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during meiosis.
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Human
Humans (taxonomically Homo sapiens) are the only extant members of the subtribe Hominina.
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Human genome
The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
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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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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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Mendelian inheritance
Mendelian inheritance is a type of biological inheritance that follows the laws originally proposed by Gregor Mendel in 1865 and 1866 and re-discovered in 1900.
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Metaphase
Metaphase (from the Greek μετά, "adjacent" and φάσις, "stage") is a stage of mitosis in the eukaryotic cell cycle in which chromosomes are at their second-most condensed and coiled stage (they are at their most condensed in anaphase).
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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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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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Phenotype
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
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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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Prometaphase
Prometaphase is the phase of mitosis following prophase and preceding metaphase, in eukaryotic somatic cells.
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Pseudoautosomal region
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes.
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Schizophrenia
Schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand reality.
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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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SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.
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Testis-determining factor
Testis-determining factor (TDF), also known as sex-determining region Y (SRY) protein, is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in humans.
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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 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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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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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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Zygosity
Zygosity is the degree of similarity of the alleles for a trait in an organism.
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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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AtDNA, AuDNA, Autosomal, Autosomal DNA, Autosomal chromosome, Autosomal set, Autosomes.
References
[1] https://en.wikipedia.org/wiki/Autosome
