Monosomy 18p, also known as De Grouchy syndrome, is a genetic disorder caused by the deletion of a portion of the short arm of chromosome 18. It is typically not inherited from parents, but rather occurs as a random event during the formation of reproductive cells or early embryonic development. Therefore, it is not considered a hereditary condition.
Monosomy 18p, also known as De Grouchy syndrome, is a genetic disorder caused by the deletion of a portion of the short arm of chromosome 18. This condition is typically not inherited from parents, but rather occurs as a random event during the formation of reproductive cells or early embryonic development. It is considered a sporadic genetic mutation.
Individuals with Monosomy 18p have a missing piece of genetic material on one of their chromosome 18s. This deletion can vary in size and can lead to a range of physical and developmental abnormalities. Common features of the syndrome include intellectual disability, growth delays, distinctive facial features, and various organ malformations.
Since Monosomy 18p is not typically inherited, the chances of having another child with the syndrome are generally low. However, in rare cases, a parent with a balanced translocation involving chromosome 18 may have an increased risk of passing on the condition to their offspring.
Genetic counseling is recommended for families affected by Monosomy 18p. A genetic counselor can provide information about the specific genetic changes involved, recurrence risks, and available testing options. They can also offer support and guidance to individuals and families affected by this rare genetic disorder.