A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome.
Causes
Full
Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). This can result in extra chromosomes in a sperm or egg cell. After fertilization, the resulting fetus has 48 chromosomes instead of the typical 46.
Autosomal tetrasomies
- Cat eye syndrome where partial tetrasomy of chromosome 22 is present
- Pallister-Killian syndrome (tetrasomy 12p)
- Tetrasomy 9p
- Tetrasomy 18p
- Tetrasomy 21, a rare form of Down syndrome
Sex-chromosome tetrasomies
- 48, XXXX syndrome
- 48, XXYY syndrome
- Klinefelter's syndrome, where XXY tetrasomy is present
External links
Chromosome abnormalities |
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| Autosomal | | Trisomies/Tetrasomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Tetrasomy 9p
- Warkany syndrome 2
- Cat eye syndrome/Trisomy 22
- Trisomy 16
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| Monosomies/deletions |
- (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
- Wolf–Hirschhorn syndrome
- Cri du chat syndrome/Chromosome 5q deletion syndrome
- Williams syndrome
- Jacobsen syndrome
- Miller–Dieker syndrome/Smith–Magenis syndrome
- DiGeorge syndrome
- 22q11.2 distal deletion syndrome
- 22q13 deletion syndrome
- genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)
- Distal 18q-/Proximal 18q-
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| X/Y linked | | Monosomy | |
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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
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| 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
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| 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)
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| 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)
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| 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
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