In 1971, de Grouchy et al. first described trisomy 8 mosaicism which was further delineated by Fryns et al., Sanchez and Yunis, Schinzel, and Riccardi in 1977. This syndrome, also known as Warkany syndrome, is a well-recognized syndrome despite its phenotypic variability.
Synonyms and Related Disorders
Warkany syndrome
Genetics/Basic Defects
- 1.
Trisomy 8 mosaicism: chromosome complement mosaic for chromosome 8 (presence of a chromosomally normal cell line in addition to the trisomic 8 cell line)
- 2.
Origin of trisomy 8 mosaicism
- a.
Different from the common autosomal trisomies that usually result from maternal meiotic errors
- b.
Trisomy 8 in spontaneous abortions: meiotic origin in the majority of cases
- c.
Postzygotic (mitotic) nondisjunction error in a diploid conceptus: the most likely origin of trisomy 8 in the live-born population
- d.
Postzygotic (mitotic) nondisjunction error in a diploid conceptus, followed by nonrandom distribution of aneuploid cells between the different...
- a.
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References
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(2012). Trisomy 8 Mosaicism Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_234
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