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  2. Distal trisomy 10q - Wikipedia

    en.wikipedia.org/wiki/Distal_trisomy_10q

    Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. [5] Humans, like all sexually reproducing species, have somatic cells that are in diploid [ 2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies. In humans, there are 23 chromosomes, but ...

  3. Aneuploidy - Wikipedia

    en.wikipedia.org/wiki/Aneuploidy

    An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. [3] [4] About 68% of human solid tumors are aneuploid. [4] Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells ( nondisjunction ). Most cases of aneuploidy in the autosomes result in miscarriage, and ...

  4. Pallister–Killian syndrome - Wikipedia

    en.wikipedia.org/wiki/Pallister–Killian_syndrome

    The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the ...

  5. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    Chromosome abnormality A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1] [2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are ...

  6. Trisomy - Wikipedia

    en.wikipedia.org/wiki/Trisomy

    Trisomy. A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. [1] A trisomy is a type of aneuploidy (an abnormal number of chromosomes).

  7. Extrapyramidal symptoms - Wikipedia

    en.wikipedia.org/wiki/Extrapyramidal_symptoms

    Extrapyramidal symptoms ( EPS) are symptoms that are archetypically associated with the extrapyramidal system of the brain's cerebral cortex. When such symptoms are caused by medications or other drugs, they are also known as extrapyramidal side effects ( EPSE ). The symptoms can be acute (short-term) or chronic (long-term). They include movement dysfunction such as dystonia (continuous spasms ...

  8. Cri du chat syndrome - Wikipedia

    en.wikipedia.org/wiki/Cri_du_chat_syndrome

    Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1] ). [2] It was first described by Jérôme Lejeune in 1963. [3] The condition affects an estimated 1 in 50,000 live births across all ethnicities ...

  9. Chromosome 1 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_1

    Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non- sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. [4] It represents about 8% of the total DNA in human cells. [5]

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