Trisomy 8

Complete trisomy 8 causes severe effects on the developing fetus and can be a cause of miscarriage.[2][3] 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.[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 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.[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.

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 Liquid is 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.

• Warkany syndrome 1

• U.S. National Library of Medicine: Warkany Syndrome 2