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Trisomy 8

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Trisomy 8
Classification and external resources
Template:Px
Chromosome 8
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.

CharacteristicsEdit

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 conditionsEdit

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

ReferencesEdit

  1. DDB 32656
  2. Riccardi VM (1977). Trisomy 8: an international study of 70 patients. Birth Defects Orig. Artic. Ser. 13 (3C): 171–84.
  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.
  6. Lai CC (1975). Trisomy 8 syndrome. Clin. Orthop. Relat. Res. 110: 238–43.
  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.

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