In a vast majority of individuals, there are no identified risk factors for Chromosome 22q Duplication Syndrome.
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Chromosome 22q Duplication Syndrome may be caused by:
It is important to note that a child’s development and future is not only influenced by the chromosome material duplicated/deleted and genes involved, but also by other factors such as one’s environment, involvement of other genes, and unique personality.
Additional (general) information on chromosomes, which is helpful in understanding the disorder:
Chromosomes are microscopic thread-like protein structures present in each cell nucleus that carry genetic information in the form of DNA (deoxyribonucleic acid). DNAs are nucleic acids that encodes the genetic information of any organisms; a basic unit of the DNA is termed a gene with a specific set of instructions and a defined function. Each chromosome is “X” shaped with a center, called the centromere, and two short arms (termed p arms) and two long arms (termed q arms).
Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. In males, it is designated XY, for chromosome X and chromosome Y; while, in females, it is designated XX, for a pair of chromosome X. The other 22 pairs of chromosomes are numbered chromosome 1 through 22, approximately according to size (with chromosome 1 being the largest; chromosome 21 being the smallest) and are referred to as autosomes or somatic chromosomes. During conception, the embryo inherits one copy of each chromosome from each parent (i.e., mother and father). Any alteration in the chromosome numbers or structure, such as via addition or deletion of chromosomal material, can result in mild to severe genetic abnormalities that may manifest as birth defects, growth delays, and intellectual disabilities.
A chromosome duplication disorder indicates that a certain portion of the chromosomal material is duplicated, which may be detected through molecular genetic testing. Depending on the nature and amount of extra material, the manifestation of a set of signs and symptoms are noted.
The signs and symptoms of Chromosome 22q Duplication Syndrome may be determined by the size and the genes present in the of duplicated genetic material. The syndrome can affect a variety of body systems resulting in a wide array of signs and symptoms, which may vary from one individual to another. It is also observed that some individuals may have no intellectual or physical findings despite having duplication of 22q, thus making it challenging to recognize or detect the disorder.
The associated signs and symptoms depend on what material is duplicated, how much duplication has occurred (quantity), where the duplications occurs (such as at the tip or center of the chromosome), and if the involvement of another chromosome is noted (known to occur in some cases).
The potential signs and symptoms of Chromosome 22q Duplication Syndrome include:
Children can have varying signs and symptoms. Some children with mild signs and symptoms may go undiagnosed in their lifetimes. Given the rarity of the condition, the healthcare provider should have a high index of suspicion to consider Chromosome 22q Duplication Syndrome in the differential diagnosis. Often, specialized tests are necessary to confirm the disorder.
22q Duplication Syndrome is diagnosed on the basis of the following information, as determined by the healthcare provider:
The diagnosis of Chromosome 22q Duplication Syndrome often requires specialized genetic testing; karyotyping does not usually help in detecting the syndrome. It is often diagnosed using any of the special genetic techniques such as:
The above genetic tests can be performed on the following samples:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
The complications of Chromosome 22q Duplication Syndrome may vary from one child to another and may include:
Complications may occur with or without treatment, and in some cases, due to treatment also.
There is no cure for Chromosome 22q Duplication Syndrome since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. It also depends on the severity of the signs and symptoms and the body systems affected. Often, a multidisciplinary team of specialists including pediatricians, neurologists, behavioral study experts, internists, cardiologists, urologists, endocrinologists, otolaryngologists, surgeons, and other healthcare professionals are involved in managing the condition.
The treatment measures for 22q Duplication Syndrome may involve:
Regular medical screening at periodic intervals with tests and physical examinations are necessary and highly recommended.
Chromosome 22q Duplication Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. A majority of cases are sporadic occurrences, which means there is no family history of the condition.
In some rare cases, the condition may be familial, meaning they occur within families. In expecting parents with a familial history:
It is important to note that the chances of both the parents with normal chromosomes having another child with Chromosome 1p Duplication Syndrome is highly unlikely. This may be confirmed via specialized prenatal testing and preimplantation genetic diagnosis (PGD), if needed. Prenatal tests may include chorionic villus sampling (CVS) and amniocentesis.
The prognosis of Chromosome 22q Duplication Syndrome is primarily dependent upon the severity of the signs and symptoms and associated complications.
The following DoveMed website link is a useful resource for additional information:
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