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Tetrasomy information


Tetrasomy
SpecialtyMedical genetics

A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome.

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Tetrasomy X

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Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome. It is associated...

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Tetrasomy

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syndrome where partial tetrasomy of chromosome 22 is present Pallister-Killian syndrome (tetrasomy 12p) Tetrasomy 9p Tetrasomy 18p Tetrasomy 21, a rare form...

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Tetrasomy 9p

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Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome...

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Tetrasomy 18p

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Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome composed of two copies of the short arm of chromosome 18 in addition...

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Pentasomy X

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have been described as "coarse", much like those of the related disorder tetrasomy X. Pentasomy X is unique amongst X-chromosome polysomies for its association...

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Trisomy X

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traits. Mosaicism with a tetrasomy X cell line generally appears more severe than typical trisomy X. Like trisomy X, tetrasomy X has a variable phenotype...

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XXXYY syndrome

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tall stature, particularly polysomies of the Y chromosome, but data on tetrasomy and pentasomy disorders is less clear and some seem associated with short...

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XXXX

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Island, also Pumpkin Island, a privately owned island XXXX syndrome, Tetrasomy X, a chromosomal disorder XXXX, or Fourecks, the Australia-inspired continent...

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Polysomy

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tetrasomic inheritance, four copies of a linkage group rather than two (tetrasomy) assort two-by-two. Polysomy types are categorized based on the number...

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Down syndrome

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1q21.1 duplication syndrome 2q31.1 microduplication Trisomy 8 Trisomy 9 Tetrasomy 9p Distal trisomy 10q Patau syndrome 13 Trisomy 16 16p11.2 duplication...

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Small supernumerary marker chromosome

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defects similar to, but less severe than, those in tetrasomy 9p. The genetic material in tetrasomy 9 and trisomy 9p that causes the birth defects is not...

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Turner syndrome

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1q21.1 duplication syndrome 2q31.1 microduplication Trisomy 8 Trisomy 9 Tetrasomy 9p Distal trisomy 10q Patau syndrome 13 Trisomy 16 16p11.2 duplication...

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Aneuploidy

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PMID 10215072. Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672–82. doi:10.1542/peds.96.4...

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Isodicentric 15

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Isodicentric 15, also called marker chromosome 15 syndrome, idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15), is a chromosome abnormality...

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15q overgrowth syndrome

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15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy syndrome. The condition was first identified in a 2009 report. Features of this...

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Klinefelter syndrome

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PMID 16650979. Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672–682. doi:10.1542/peds.96...

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Chromosome abnormality

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(resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.). Aneuploidy can be full, involving a whole chromosome missing or...

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Intellectual disability

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abnormalities with the X or Y chromosome may also cause disability. Tetrasomy X and pentasomy X syndrome affect a small number of girls worldwide, while...

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Miscarriage

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1q21.1 duplication syndrome 2q31.1 microduplication Trisomy 8 Trisomy 9 Tetrasomy 9p Distal trisomy 10q Patau syndrome 13 Trisomy 16 16p11.2 duplication...

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XXYY syndrome

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mild symptoms, while others are more significantly affected. Aneuploidy Tetrasomy X Taurodontism "48,XXYY syndrome | Genetic and Rare Diseases Information...

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Birth defect

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1q21.1 duplication syndrome 2q31.1 microduplication Trisomy 8 Trisomy 9 Tetrasomy 9p Distal trisomy 10q Patau syndrome 13 Trisomy 16 16p11.2 duplication...

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XYYYY syndrome

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PMID 28137251. Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4): 672–682. doi:10.1542/peds.96.4.672...

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X chromosome

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condition. Females with more than one extra copy of the X chromosome (48, tetrasomy X or 49, pentasomy X) have been identified, but these conditions are rare...

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Chromosome

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and overlapping fingers. Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15). Jacobsen syndrome, which...

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9P

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9P/Tempel; see Tempel 1 Monosomy 9p, a chromosomal disorder due to deletion Tetrasomy 9p, a genetic disease due to inclusion 9P, a variant of Salmson 9 9P,...

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