Contents 1 Description and causes 1.1 Terminology 2 Human trisomy 3 See also 4 References

Description and causes[edit] Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent. In such organisms, a process called meiosis creates cells called gametes (eggs or sperm) that have only one set of chromosomes. The number of chromosomes is different for different species. Humans have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes. (See non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo may also have an entire copy of the extra chromosome. Terminology[edit] The number of chromosomes in the cell where trisomy occurs is represented as, for example, 2n+1 if one chromosome shows trisomy, 2n+1+1 if two show trisomy, etc.[2] "Full trisomy", also called "primary trisomy",[2] means that an entire extra chromosome has been copied. "Partial trisomy" means that there is an extra copy of part of a chromosome. "Secondary trisomy" - the extra chromosome has quadruplicated arms (the arms are identical; it is an "isochromosome").[2] "Tertiary trisomy" - the extra chromosome is made up of copies of arms from two other chromosomes.[2] Trisomies are sometimes characterised as "autosomal trisomies" (trisomies of the non-sex chromosomes) and "sex-chromosome trisomies." Autosomal trisomies are described by referencing the specific chromosome that has an extra copy.[citation needed] Thus, for example, the presence of an extra chromosome 21, which is found in Down syndrome, is called trisomy 21.

Human trisomy[edit] Karyotype of a human with Trisomy 21 (Down syndrome) Trisomies can occur with any chromosome, but often result in miscarriage, rather than live birth. For example, Trisomy 16 is the most common trisomy in human pregnancies, occurring in more than 1% of pregnancies; only those pregnancies in which some normal cells occur in addition to the trisomic cells, or mosaic trisomy 16, survive.[3] This condition, however, usually results in spontaneous miscarriage in the first trimester. The most common types of autosomal trisomy that survive to birth in humans are: Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Trisomy 9 Trisomy 8 (Warkany syndrome 2) Trisomy 22 Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life expectancy. Trisomy of sex chromosomes can also occur and include:[4] XXX (Triple X syndrome) XXY (Klinefelter syndrome) XYY Compared to trisomy of the autosomal chromosomes, trisomy of the sex chromosomes normally has less severe consequences. Individuals may show few or no symptoms and have a normal life expectancy.[4]

See also[edit] Chromosome abnormalities Aneuploidy Karyotype Sexual reproduction Monosomy

References[edit] ^ "CRC - Glossary T". Retrieved 2007-12-23.  ^ a b c d Rieger, R.; Michaelis, A.; Green, M.M. (1968). A glossary of genetics and cytogenetics: Classical and molecular. New York: Springer-Verlag. ISBN 9780387076683.  ^ Hassold, T; Merrill, M; Adkins, K; Freeman, S; Sherman, S (1995). "Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16". American Journal of Human Genetics. 57 (4): 867–74. PMC 1801507 . PMID 7573048.  ^ a b O'Connor, Clare (2008). "Chromosomal Abnormalities: Aneuploidies". Nature Education. 1 (1): 172.  v t e Chromosome abnormalities (Q90–Q99, 758) Autosomal Trisomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Warkany syndrome 2 8 Cat eye syndrome/Trisomy 22 22 Trisomy 16 Monosomies/deletions 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome 1 Wolf–Hirschhorn syndrome 4 Cri du chat/Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome/Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome/Prader–Willi syndrome (15) Distal 18q-/Proximal 18q- X/Y linked Monosomy Turner syndrome (45,X) Trisomy/tetrasomy, other karyotypes/mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY Translocations Leukemia/lymphoma Lymphoid Burkitt's lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large-cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL; 22 BCR) Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) Acute promyelocytic leukemia t(15 PML,17 RARA) Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1) Other Ewing's sarcoma t(11 FLI1; 22 EWS) Synovial sarcoma t(x SYT;18 SSX) Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) Myxoid liposarcoma t(12 DDIT3; 16 FUS) Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS) Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1) Other Fragile X syndrome Uniparental disomy XX male syndrome/46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6; 9; 14; 15; 18; 20; 21, 22 Retrieved from "" Categories: CytogeneticsChromosomal abnormalitiesHidden categories: Articles needing additional references from August 2012All articles needing additional referencesInfobox medical conditionAll articles with unsourced statementsArticles with unsourced statements from March 2009

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Wikipedia:VerifiabilityHelp:Introduction To Referencing With Wiki Markup/1Help:Maintenance Template RemovalSpecialty (medicine)Medical GeneticsInternational Statistical Classification Of Diseases And Related Health ProblemsICD-10Medical Subject HeadingsOrphanetPolysomyChromosomeAneuploidyMeiosisNon-disjunctionWikipedia:Citation NeededChromosome 21Down SyndromeEnlargeKaryotypeChromosomeTrisomy 16MiscarriageAutosomeDown SyndromeEdwards SyndromePatau SyndromeTrisomy 9Trisomy 8Trisomy 22Patau SyndromeIntellectual DisabilitySex ChromosomesTriple X SyndromeKlinefelter SyndromeXYY SyndromeChromosome AbnormalitiesAneuploidyKaryotypeSexual ReproductionMonosomyInternational Standard Book NumberSpecial:BookSources/9780387076683PubMed CentralPubMed IdentifierTemplate:Chromosomal AbnormalitiesTemplate Talk:Chromosomal AbnormalitiesChromosome AbnormalityICD-10 Chapter XVII: Congenital Malformations, Deformations And Chromosomal AbnormalitiesList Of ICD-9 Codes 740–759: Congenital AnomaliesAutosomeDown SyndromeChromosome 21 (human)Edwards SyndromeChromosome 18 (human)Patau SyndromeChromosome 13 (human)Trisomy 9Trisomy 8Chromosome 8 (human)Cat Eye SyndromeTrisomy 22Chromosome 22 (human)Trisomy 16MonosomyDeletion (genetics)1q21.1 Deletion Syndrome1q21.1 Duplication SyndromeTAR SyndromeChromosome 1 (human)Wolf–Hirschhorn SyndromeChromosome 4 (human)Cri Du ChatChromosome 5q Deletion SyndromeChromosome 5 (human)Williams SyndromeChromosome 7 (human)Jacobsen SyndromeChromosome 11 (human)Miller–Dieker SyndromeSmith–Magenis SyndromeChromosome 17 (human)DiGeorge SyndromeChromosome 22 (human)22q11.2 Distal Deletion SyndromeChromosome 22 (human)22q13 Deletion SyndromeChromosome 22 (human)Genomic ImprintingAngelman SyndromePrader–Willi SyndromeChromosome 15 (human)Distal 18q-Proximal 18q-X ChromosomeY ChromosomeMonosomyTurner SyndromeTetrasomyAneuploidyMosaic (genetics)Klinefelter SyndromeXXYY SyndromeXXXY Syndrome49, XXXXY SyndromeTriple X SyndromeTetrasomy X49, XXXXXXYY Syndrome45,X/46,XY MosaicismChromosomal TranslocationLeukemiaLymphomaBurkitt's LymphomaMycIGH@Follicular LymphomaIGH@Bcl-2Mantle Cell LymphomaMultiple MyelomaCyclin D1IGH@Anaplastic Large-cell LymphomaAnaplastic Lymphoma KinaseNPM1Acute Lymphoblastic LeukemiaPhiladelphia ChromosomeABL (gene)BCR (gene)Acute Myeloblastic Leukemia With MaturationRUNX1T1RUNX1Acute Promyelocytic LeukemiaPromyelocytic Leukemia ProteinRetinoic Acid Receptor AlphaAcute Megakaryoblastic LeukemiaRBM15MKL1Ewing's SarcomaFLI1Ewing Sarcoma Breakpoint Region 1Synovial SarcomaSynaptotagmin 1Synovial Sarcoma, X BreakpointDermatofibrosarcoma ProtuberansCollagen, Type I, Alpha 1PDGFBMyxoid LiposarcomaDNA Damage-inducible Transcript 3FUS (gene)Desmoplastic Small-round-cell TumorWT1Ewing Sarcoma Breakpoint Region 1Alveolar RhabdomyosarcomaPAX3FOXO1PAX7FOXO1Fragile X SyndromeUniparental DisomyXX Male Syndrome46,XX Testicular Disorders Of Sex DevelopmentMarker ChromosomeRing ChromosomeRing Chromosome 14 SyndromeRing Chromosome 18Ring Chromosome 20 SyndromeHelp:CategoryCategory:CytogeneticsCategory:Chromosomal AbnormalitiesCategory:Articles Needing Additional References From August 2012Category:All Articles Needing Additional ReferencesCategory:Infobox Medical ConditionCategory:All Articles With Unsourced StatementsCategory:Articles With Unsourced Statements From March 2009Discussion About Edits From This IP Address [n]A List Of Edits Made From This IP Address [y]View The Content Page [c]Discussion About The Content Page [t]Edit This Page [e]Visit The Main Page [z]Guides To Browsing WikipediaFeatured Content – The Best Of WikipediaFind Background Information On Current EventsLoad A Random Article [x]Guidance On How To Use And Edit WikipediaFind Out About WikipediaAbout The Project, What You Can Do, Where To Find ThingsA List Of Recent Changes In The Wiki [r]List Of All English Wikipedia Pages Containing Links To This Page [j]Recent Changes In Pages Linked From This Page [k]Upload Files [u]A List Of All Special Pages [q]Wikipedia:AboutWikipedia:General Disclaimer

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