Rare Chromosome Disorder (T8M) Trisomy 8 Mosaic Syndrome

Channel: kyliebewley   |   2014/03/01
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Rare Chromosome Disorder (T8M) Trisomy 8 Mosaic Syndrome
Rare Chromosome Disorder (T8M) Trisomy 8 Mosaic Syndrome
::2014/03/01::
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RARE CHROMOSOME DISORDER ~ Dowie living with T8M (Trisomy 8 Mosaic syndrome)
RARE CHROMOSOME DISORDER ~ Dowie living with T8M (Trisomy 8 Mosaic syndrome)
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Trisomy 8 Awareness!!
Trisomy 8 Awareness!!
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2013 Trisomy 9 Family Gathering in Chicago, IL
2013 Trisomy 9 Family Gathering in Chicago, IL
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trisomy 18 and living {kayden}
trisomy 18 and living {kayden}
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One Extra Chromosome
One Extra Chromosome
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Hayliee Hope Marie Jones- Full Trisomy 18
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CHANGING THE LABEL...(Advocating for Trisomy 13, 18, and other related Trisomies)
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Trisomy 18 with Jasper Tran Will
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Mieko on crutches 2008, Trisomy 18
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The Faces of Trisomy 13/18
The Faces of Trisomy 13/18
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trisomy
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Lane @ 29 months w/ Full Trisomy 18 is now able to pull himself up into a crawl position
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Mieko news story 2008, Trisomy 18
Mieko news story 2008, Trisomy 18
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The World of a child with Trisomy
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Trisomy 13  - 2013 Josiah(16yrs) & Natalia(13yrs)  Visit Trisomy.org & LivingwithTRI13.org
Trisomy 13 - 2013 Josiah(16yrs) & Natalia(13yrs) Visit Trisomy.org & LivingwithTRI13.org
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My Trisomy 18 Angel Cameron James Brown With Omphalocele
My Trisomy 18 Angel Cameron James Brown With Omphalocele
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Jaxton
Jaxton's Story // a trisomy 18 battle
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Little Miss Hadley Mae living with Trisomy 13. #HadleyisaMIRACLE #GodisAWESOME.
Little Miss Hadley Mae living with Trisomy 13. #HadleyisaMIRACLE #GodisAWESOME.
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Living with Trisomy 13--Part 1
Living with Trisomy 13--Part 1
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Mia 16months old With Trisomy 18
Mia 16months old With Trisomy 18
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Trisomy 18- Khloe Nicole Broman
Trisomy 18- Khloe Nicole Broman
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yellow car T8M style
yellow car T8M style
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RESULTS [51 .. 101]
From Wikipedia, the free encyclopedia
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Trisomy 8
Classification and external resources
Chromosome 8.svg
ICD-10 Q92
ICD-9 758
DiseasesDB 32656
MeSH D014314

Trisomy 8, also known as Warkany syndrome 2,[1] is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.

Characteristics[edit]

Complete trisomy 8 causes severe effects on the developing fetus and can be a cause of miscarriage.[2] Complete trisomy 8 is usually an early lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay.[3][4] Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood, and exhibit a characteristic and recognizable pattern of developmental abnormalities. Common findings include retarded psychomotor development, moderate to severe mental retardation, variable growth patterns which can result in either abnormally short or tall stature, an expressionless face, and many musculoskeletal, visceral, and eye abnormalities, as well as other anomalies.[5] A deep plantar furrow is considered to be pathognomonic of this condition, especially when seen in combination with other associated features.[6] The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.

Other conditions[edit]

Trisomy 8 mosaicism affects wide areas of chromosome 8 containing many genes, and can thus be associated with a range of symptoms.

References[edit]

  1. ^ DDB 32656
  2. ^ Riccardi VM (1977). "Trisomy 8: an international study of 70 patients". Birth Defects Orig. Artic. Ser. 13 (3C): 171–84. PMID 890109. 
  3. ^ Jones, K. L. (2005). Smith's Recognizable Patterns of Human Malformation. (6th ed.). Philadelphia: W. B. Sanders Company.
  4. ^ Jones, K. L. (2005). Smith's Recognizable Patterns of Human Malformation. (6th ed.). Philadelphia: W. B. Sanders Company.
  5. ^ Riccardi VM (1977). "Trisomy 8: an international study of 70 patients". Birth Defects Orig. Artic. Ser. 13 (3C): 171–84. PMID 890109. 
  6. ^ Lai CC (1975). "Trisomy 8 syndrome". Clin. Orthop. Relat. Res. 110: 238–43. PMID 1157389. 
  7. ^ "MIM ID #268400 ROTHMUND-THOMSON SYNDROME; RTS". NCBI/OMIM. 
  8. ^ "MIM ID *134450 FACTOR VII REGULATOR; F7R". NCBI/OMIM. 
  9. ^ "MIM ID #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1". NCBI/OMIM. 
  10. ^ "MIM ID #179613 RECOMBINANT CHROMOSOME 8 SYNDROME". NCBI/OMIM. 

External links[edit]

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