The disease is caused by unequal crossing over is the Alagille syndrome. Its signs and symptoms depend on which part of the body it affected. If it affects the liver, its signs and symptoms are jaundice, itchy skin, and xanthomas. Most people who have this disorder usually “have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin” (NIH, 2016). This disease is associated with other diseases such as pulmonic stenosis and tetralogy of Fallot.
“In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille
“In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille