Template:Chromosomal abnormalities: Difference between revisions

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  | list1 = {{Navbox|child
  | list1 = {{Navbox|child


|group1=Duplications,<br>including [[Trisomy|trisomies]]
  | group1 = [[Trisomy|Trisomies]]/Tetrasomies
|list1=
  | list1 =
*[[1q21.1 duplication syndrome]]
* [[Down syndrome]]
*[[Syndactyly-nystagmus syndrome due to 2q31.1 microduplication|2q31.1 microduplication]]
** [[Chromosome 21|21]]
* [[Trisomy 8]]
* [[Edwards syndrome]]
** [[Chromosome 18|18]]
* [[Patau syndrome]]
** [[Chromosome 13|13]]
 
* [[Trisomy 9]]
* [[Trisomy 9]]
* [[Tetrasomy 9p]]
* [[Tetrasomy 9p]]
*[[Distal trisomy 10q]]
* [[Trisomy 8|Warkany syndrome 2]]
* [[Patau syndrome]]
** [[Chromosome 8|8]]
** [[Chromosome 13|13]]
* [[Cat eye syndrome]]/[[Trisomy 22]]
** [[Chromosome 22|22]]
* [[Trisomy 16]]
* [[Trisomy 16]]
*[[16p11.2 duplication syndrome]]
* [[Trisomy 18]]
* [[Down syndrome]]
** [[Chromosome 21|21]]
*[[22q11.2 duplication syndrome]]
* [[Trisomy 22]]
*[[Cat eye syndrome|Cat-eye syndrome]]
** [[Chromosome 22|22]]


   | group2 = [[Deletion (genetics)|Deletions]]
   | group2 = [[Monosomy|Monosomies]]/[[Deletion (genetics)|deletions]]
   | list2 =
   | list2 =
* ([[1q21.1 copy number variations]]/[[1q21.1 deletion syndrome]]/[[1q21.1 duplication syndrome]]/[[TAR syndrome]]/[[1p36 deletion syndrome]])
* ([[1q21.1 deletion syndrome]]/[[1q21.1 duplication syndrome]]/[[TAR syndrome]]/[[1p36 deletion syndrome]])
** [[Chromosome 1|1]]
** [[Chromosome 1|1]]
* [[Wolf–Hirschhorn syndrome]]
* [[Wolf–Hirschhorn syndrome]]
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* [[Jacobsen syndrome]]
* [[Jacobsen syndrome]]
** [[Chromosome 11|11]]
** [[Chromosome 11|11]]
* [[Miller–Dieker syndrome]]/[[Smith–Magenis syndrome]]/[[17q12 microdeletion syndrome]]
* [[Miller–Dieker syndrome]]/[[Smith–Magenis syndrome]]
** [[Chromosome 17|17]]
** [[Chromosome 17|17]]
* [[DiGeorge syndrome]]
* [[DiGeorge syndrome]]
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  | list2 = {{Navbox|child
  | list2 = {{Navbox|child


   | group1 = [[Monosomy|Monosomies]]
   | group1 = [[Monosomy]]
   | list1 =
   | list1 =
* [[Turner syndrome|Turner syndrome (45,X)]]
* [[Turner syndrome|Turner syndrome (45,X)]]


   | group2 = [[Trisomy|Trisomies]]/[[Tetrasomy|tetrasomies]],<br />[[Aneuploidy|other karyotypes]]/[[Mosaic (genetics)|mosaics]]
   | group2 = [[Trisomy]]/[[tetrasomy]],<br />[[Aneuploidy|other karyotypes]]/[[Mosaic (genetics)|mosaics]]
   | list2 =
   | list2 =
* [[Klinefelter syndrome|Klinefelter syndrome (47,XXY)]]
* [[Klinefelter syndrome|Klinefelter syndrome (47,XXY)]]
* [[XXYY syndrome|XXYY syndrome (48,XXYY)]]
* [[XXYY syndrome|XXYY syndrome (48,XXYY)]]
* [[XXXY syndrome|XXXY syndrome (48,XXXY)]]
* [[XXXY syndrome|XXXY syndrome (48,XXXY)]]
* [[XXXYY syndrome|XXXYY syndrome (49,XXXYY)]]
* [[49,XXXYY|49,XXXYY]]
* [[XXXXY syndrome|XXXXY syndrome (49,XXXXY)]]
* [[49,XXXXY]]


* [[Trisomy X|Trisomy X (47,XXX)]]
* [[Triple X syndrome|Triple X syndrome (47,XXX)]]
* [[Tetrasomy X|Tetrasomy X (48,XXXX)]]
* [[Tetrasomy X|Tetrasomy X (48,XXXX)]]
* [[Pentasomy X|Pentasomy X (49,XXXXX)]]
* [[Pentasomy X|49,XXXXX]]


* [[XYY syndrome|XYY syndrome (47,XYY)]]
* [[XYY syndrome|Jacobs syndrome (47,XYY)]]
* [[XYYY syndrome|XYYY syndrome (48,XYYY)]]
* [[48,XYYY|48,XYYY]]
* [[XYYYY syndrome|XYYYY syndrome (49,XYYYY)]]
* [[49,XYYYY|49,XYYYY]]


* [[45,X/46,XY mosaicism|45,X/46,XY]]
* [[45,X/46,XY mosaicism|45,X/46,XY]]
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     | group1 = Lymphoid
     | group1 = Lymphoid
     | list1 =
     | list1 =
* [[Burkitt lymphoma]] t(8 [[Myc|MYC]];14 [[IGH@|IGH]])
* [[Burkitt's lymphoma]] t(8 [[Myc|MYC]];14 [[IGH@|IGH]])
* [[Follicular lymphoma]] t(14 [[IGH@|IGH]];18 [[Bcl-2|BCL2]])
* [[Follicular lymphoma]] t(14 [[IGH@|IGH]];18 [[Bcl-2|BCL2]])
* [[Mantle cell lymphoma]]/[[Multiple myeloma]] [[t(11:14)|t(11 CCND1:14 IGH)]]
* [[Mantle cell lymphoma]]/[[Multiple myeloma]] t(11 [[Cyclin D1|CCND1]]:14 [[IGH@|IGH]])
* [[Anaplastic large-cell lymphoma ]] t(2 [[Anaplastic lymphoma kinase|ALK]];5 [[NPM1]])
* [[Anaplastic large-cell lymphoma ]] t(2 [[Anaplastic lymphoma kinase|ALK]];5 [[NPM1]])
* [[Acute lymphoblastic leukemia]]
* [[Acute lymphoblastic leukemia]]
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   | group2 = Other
   | group2 = Other
   | list2 =
   | list2 =
* [[Ewing sarcoma]] t(11 [[FLI1]]; 22 [[RNA-binding protein EWS|EWS]])
* [[Ewing's sarcoma]] t(11 [[FLI1]]; 22 [[Ewing sarcoma breakpoint region 1|EWS]])
* [[Synovial sarcoma]] t(x [[SYT1|SYT]];18 [[Synovial sarcoma, X breakpoint|SSX]])
* [[Synovial sarcoma]] t(x [[SYT1|SYT]];18 [[Synovial sarcoma, X breakpoint|SSX]])
* [[Dermatofibrosarcoma protuberans]] t(17 [[Collagen, type I, alpha 1|COL1A1]];22 [[PDGFB]])
* [[Dermatofibrosarcoma protuberans]] t(17 [[Collagen, type I, alpha 1|COL1A1]];22 [[PDGFB]])
* [[Myxoid liposarcoma]] t(12 [[DNA damage-inducible transcript 3|DDIT3]]; 16 [[RNA-binding protein FUS|FUS]])
* [[Myxoid liposarcoma]] t(12 [[DNA damage-inducible transcript 3|DDIT3]]; 16 [[FUS (gene)|FUS]])
* [[Desmoplastic small-round-cell tumor]] t(11 [[Wilms tumor protein|WT1]]; 22 [[RNA-binding protein EWS|EWS]])
* [[Desmoplastic small-round-cell tumor]] t(11 [[WT1]]; 22 [[Ewing sarcoma breakpoint region 1|EWS]])
* [[Alveolar rhabdomyosarcoma]] t(2 [[PAX3]]; 13 [[Forkhead box protein O1|FOXO1]]) t (1 [[PAX7]]; 13 [[Forkhead box protein O1|FOXO1]])
* [[Alveolar rhabdomyosarcoma]] t(2 [[PAX3]]; 13 [[FOXO1]]) t (1 [[PAX7]]; 13 [[FOXO1]])


  }}
  }}
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* [[Fragile X syndrome]]
* [[Fragile X syndrome]]
* [[Uniparental disomy]]
* [[Uniparental disomy]]
* [[XX male syndrome]]/[[XX male syndrome|46,XX testicular disorders of sex development]]
* [[XX male syndrome]]/[[46,XX testicular disorders of sex development]]
* [[Marker chromosome]]
* [[Marker chromosome]]
* [[Ring chromosome]]  
* [[Ring chromosome]]  
** [[Ring chromosome 6|6]]; [[Ring chromosome 9|9]]; [[Ring chromosome 14 syndrome|14]]; [[Ring chromosome 15|15]]; [[Ring chromosome 18|18]]; [[Ring chromosome 20 syndrome|20]]; [[Ring chromosome 21|21]], [[Ring chromosome 22|22]]
** [[Ring chromosome 6|6]]; [[Ring chromosome 9|9]]; [[Ring chromosome 14 syndrome|14]]; [[Ring chromosome 15|15]]; [[Ring 18|18]]; [[Ring chromosome 20 syndrome|20]]; [[Ring chromosome 21|21]], [[Ring chromosome 22|22]]


}}<noinclude>
}}<noinclude>
{{Documentation|content=
{{collapsible option}}
{{collapsible option}}
[[Category:Genetic disease and disorder templates by mechanism]]
[[Category:Genetic disease and disorder templates by mechanism]]
 
</noinclude>
}}</noinclude>
{{no-index-template}}

Latest revision as of 18:19, 8 March 2025

Chromosome abnormalities
Autosomal
X/Y linked
Translocations
Other


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