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Ring 18
Ring 18 Print
Introduction
The goal of this article is to describe the major features of ring 18. This information may help you and your health care team make decisions about how to care for a person with ring 18.
As you read through this article, remember that
no two people with ring 18 are exactly alike. One person may have different medical and developmental concerns from another person with ring 18. Also, remember that no one with ring 18p will have all of the features discussed below. In addition, people with ring 18 share many features with their family members. They will also have their
own unique skills and abilities which you will not find in the following list.
Lastly, research is critical. As we learn more about ring 18, we also learn more about how to best treat it. This will improve the health and development of people with ring 18.
Background
Ring 18 was first described in the 1960s. Since then,
over 50 case reports have been published, describing the features of ring 18.
Genetic Basis of Ring 18
Typically, ch
romosomes look like long rods when examined under the microscope. Sometimes, one of the chromosomes is rearranged into a ring-like shape. This is called a “ring chromosome”. A ring chromosome forms when the end of one of the chromosome arms fuses with the end of the other arm. For more information about basic genetic concepts, please review the Genetics FAQ page.
In nearly all cases
of ring chromosomes, pieces of the long and the short arms of the chromosome are missing. These pieces m
ay be large or very small. They may or may not contain genes that are important in growth and development.
A ring chromosome occurs when the two ends of the chromosome fuse to form a ring. Typically, this means that the end of the long arm as well as the end of the short arm of the chromosome are missing.
Ring 18 is different from other chromosome 18 changes (18q-, 18p-, tetrasomy 18p) in that mosaicism is fairly common in individuals with ring 18. Mosaicism occurs when different cells have different numbers or arrangements of chromosomes. For example, in the case of ring 18, some of the bodyÂ’s cells may have the ring chromosome while other cells do not.
Characteristics of Ring 18
As discussed above, most people with
ring 18 are missing a piece of the long arm of chromosome 18 as well as a piece of the short arm. Therefore, they can have features of both 18p- as well as 18q-. T
he features that are discussed in this article have been described in the medical literature in individuals with ring 18.
Development
In
most individuals, ring 18 changes the way the brain develops and works.
Infants, toddlers, and young children w
ith ring 18 may develop more slowly than those without ring 18. For example, it may take a little longer for them to roll over, sit, crawl, and walk. It may also take longer for them
to reach for and grab toys, hold a bottle, and to feed themselves. L
anguage skills also develop later than their peers. Almost all children with ring 18 will
require some type of therapy, such as speech, occupational, or physical therapy.
People with ring 18 usually have some
mental impairment, though the degree of impairment varies among individuals. Based on literature reports, people with ring 18 appear to have IQ scores ranging from mild to severe mental impairment.
Again, it is important to remember that every person with
ring 18 is different. Some may be more severely affected than others. At this time, we cannot predict exactly how ring 18 will affect a childÂ’s development.
Some people with ring 18 have a condition called holoprosencephaly. Holoprosencephaly is a type of birth defect in which the brain fails to divide into two separate halves during early embryonic development. This term includes a wide range of severity. In some babies, this condition is so severe that they do not survive in the womb or they may die shortly after birth.
Other individuals may have much more mild forms of the condition. For example, an MRI may show that their brain has some other types of changes, such as a missing corpus callosum (the connection between the two halves of the brain). There may be changes in the facial features as well, such as a cleft lip and palate or hypotelorism (eyes that are closely set to one another). Another minor feature of holoprosencephaly is a single incisor (front tooth) located at the midline of the mouth.
Individuals with holoprosencephaly may have a number of different health concerns. Many have developmental delays. Seizures and hydrocephalus (build-up of fluid in the brain) may also occur. Some people with holoprosencephaly may have hormone problems caused by a change in the structure of the pituitary gland in the brain.
People with ring 18 may have neurological problems that are unrelated to the presence or absence of holoprosencephaly. For example, they may have low muscle tone (hypotonia). They may have slower or absent reflexes. In a minority of cases, a person with ring 18 may develop seizures.
If there are neurological concerns, a person should be referred to a neurologist for a complete evaluation.
Vision problems are often found in people with ring 18. Strabismus is fairly common in people with ring 18. Strabismus occurs when the movements of the eyes are not coordinated with one another. This is frequently referred to as being “cross-eyed”. Sometimes, people with ring 18 have nystagmus, or involuntary eye movements. Near-sightedness and far-sightedness also happen fairly frequently in people ring 18.
Because vision problems are possible, people with ring 18 should have regular eye exams. In some cases, surgery may be required to treat strabismus."
plenty more so cut the ******* ass attacks. this stuff is personal and i should of never have to said it from the start. But since you guys are so ******* twits it had to be done.