Trisomy 8

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title: "Trisomy 8" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["autosomal-trisomies", "syndromes"] topic_path: "general/autosomal-trisomies" source: "https://en.wikipedia.org/wiki/Trisomy_8" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::data[format=table title="Infobox medical condition (new)"]

FieldValue
nameTrisomy 8
imageChromosome 8.svg
captionChromosome 8
width80
fieldMedical genetics
synonymsWarkany syndrome 2
symptomsStunted development, moderate to severe intellectual disability, height extremes, lack of facial expression, birth defects
complicationsRothmund–Thomson syndrome, tricho–rhino–phalangeal syndrome, chronic myeloid leukaemia
durationLifelong
causesThree copies of chromosome 8
diagnosisKaryotype
prognosisUsually gestationally lethal in complete form
::

| name = Trisomy 8 | image = Chromosome 8.svg | caption = Chromosome 8 | width = 80 | | pronounce = | field = Medical genetics | synonyms = Warkany syndrome 2 | symptoms = Stunted development, moderate to severe intellectual disability, height extremes, lack of facial expression, birth defects | complications = Rothmund–Thomson syndrome, tricho–rhino–phalangeal syndrome, chronic myeloid leukaemia | onset = | duration = Lifelong | types = | causes = Three copies of chromosome 8 | risks = | diagnosis = Karyotype | differential = | prevention = | treatment = | medication = | prognosis = Usually gestationally lethal in complete form | frequency = | deaths =

Trisomy 8 causes Warkany syndrome 2, a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.

Characteristics

Complete trisomy 8 causes severe abnormalities in the developing fetus and can be a cause of miscarriage. Complete trisomy 8 is usually a gestational 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. 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 stunted psychomotor development, moderate to severe intellectual disability, 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. A deep plantar furrow is considered to be pathognomonic of this condition, especially when seen in combination with other associated features. The type and severity of symptoms are dependent upon the prevalence of the affected cells and their location within the body.

The short arm of chromosome 8 (8p) is known to be an evolutionary hotspot for structural rearrangements, with some genetic rearrangements reaching 31.5 Mb and containing 175 OMIM genes. Rearrangements involving 8p—including trisomies, deletions, duplications, and translocations —are highly variable in size and gene content, resulting in a wide range of neurodevelopmental and systemic phenotypes. Project 8p Foundation, a global nonprofit patient advocacy organization, supports individuals affected by chromosome 8p disorders, including 8p trisomies, through community support and connection, a longitudinal natural history study, biorepository, open-access data platform, and the development of precision medicine tools aimed at improving clinical care and accelerating discovery. There is also a multidisciplinary clinic for 8p rearrangements led by Project 8p available to affected families.

Other conditions

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

Diagnosis

The simplest and easiest way to detect trisomy 8 is by a karyotype, a photograph representing all chromosomes of a cell in an orderly manner. Amniocentesis is also a technique for diagnosis. Samples from the amniotic fluid are taken from a fetus, cultured, then analyzed by a karyotype. If the photograph shows 3 copies of chromosome 8 instead of 2, then the individual has trisomy 8.

References

References

  1. {{DiseasesDB. 32656
  2. Riccardi VM. (1977). "Trisomy 8: an international study of 70 patients". Birth Defects Orig. Artic. Ser..
  3. (2011). "Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review". Taiwanese Journal of Obstetrics and Gynecology.
  4. Jones, K. L. (2005). Smith's Recognizable Patterns of Human Malformation. (6th ed.). Philadelphia: W. B. Sanders Company.
  5. Lai CC. (1975). "Trisomy 8 syndrome". Clin. Orthop. Relat. Res..
  6. (2025-08-11). "Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome". Orphanet Journal of Rare Diseases.
  7. (February 2025). "Chromosome 8p Syndromes Clinical Presentation and Management Guidelines". Clinical Genetics.
  8. "Home".
  9. (2023-10-31). "Project 8p Foundation - National Organization for Rare Disorders".
  10. "MIM ID #268400 ROTHMUND-THOMSON SYNDROME; RTS". NCBI/OMIM.
  11. "MIM ID *134450 FACTOR VII REGULATOR; F7R". NCBI/OMIM.
  12. "MIM ID #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1". NCBI/OMIM.
  13. "MIM ID #179613 RECOMBINANT CHROMOSOME 8 SYNDROME". NCBI/OMIM.

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