1p36 Deletion Syndrome
What is 1p36 Deletion Syndrome?
1p36 Deletion Syndrome is a small amount of genetic material deleted at the very tip of one of your two chromosome 1. This can cause birth defects, changes in physical appearance, low muscle tone, varying degrees of delayed mental skills, and other minor and more serious problems. Everyone with 1p36 Deletion are unique; yet share some of the same characteristics. These can be; but are not limited - physical features, seizures, cardiomyopathy, low muscle tone, hearing and vision loss, developmental delays, and other even more rare complications.
What causes 1p36 Deletion Syndrome?
1p36 Deletion is caused by a missing or deleted chromosome 1. Although it is not know why exactly chromosome deletions occur, there is no evidence the parents could have done anything to prevent it. The majority of the time, 1p36 Deletion Syndrome is not inherited. Occassionally, one or both parents may have a chromosome rearrangement. 1p36 Deletion Syndrome can be detected through a high-resolution chromosome test or FISH. Many times 1p36 Deletion Syndrome goes undetected by even expert doctors.
1p36 Deletion Syndrome is a small amount of genetic material deleted at the very tip of one of your two chromosome 1. This can cause birth defects, changes in physical appearance, low muscle tone, varying degrees of delayed mental skills, and other minor and more serious problems. Everyone with 1p36 Deletion are unique; yet share some of the same characteristics. These can be; but are not limited - physical features, seizures, cardiomyopathy, low muscle tone, hearing and vision loss, developmental delays, and other even more rare complications.
What causes 1p36 Deletion Syndrome?
1p36 Deletion is caused by a missing or deleted chromosome 1. Although it is not know why exactly chromosome deletions occur, there is no evidence the parents could have done anything to prevent it. The majority of the time, 1p36 Deletion Syndrome is not inherited. Occassionally, one or both parents may have a chromosome rearrangement. 1p36 Deletion Syndrome can be detected through a high-resolution chromosome test or FISH. Many times 1p36 Deletion Syndrome goes undetected by even expert doctors.