Introduction:
Chromosome 1q duplication syndrome is a rare condition characterized by an extra copy of a little fragment of chromosome one in the body's cells, resulting in different signs and symptoms. These can range from minor to severe, depending on factors such as the amount of genetic material acquired (duplicated), the number of genes impacted, and the function of the affected genes. The illness affects newborns (congenital manifestation). Small duplications do not usually provide any substantial or serious health risks. However, when there are severe duplications, the presentations might be serious.
Who Is Affected by Chromosome 1q Duplication Syndrome?
As already mentioned, chromosome 1q duplication syndrome is a rare condition, and the incidence rate of it is also unknown. Individuals with this condition may be left untreated for a long time because minimal evidence is available regarding this syndrome. As a result, determining the true prevalence of the illness may be challenging. Symptoms may appear during or shortly after the child's birth. Both males and females are affected, including individuals of all races and ethnicities.
What Is the Risk Factor of Chromosome 1q Duplication Syndrome?
It is critical to understand that having a risk factor does not guarantee that one will get the ailment. However, a risk factor enhances the chances of developing a condition when compared to someone who does not have the risk factors. Furthermore, the absence of a risk factor does not rule out the possibility of developing the illness. Therefore, it is always an option to talk to a doctor about the impact of risk factors. Most people have no known risk factors for chromosome 1q duplication syndrome. However, positive family history may be an essential risk factor for 1q duplication syndrome in some people.
What Causes Chromosome 1q Duplication Syndrome?
The presence of additional chromosomal material on the long arm (q) of chromosome one causes chromosome 1q duplication syndrome. The amount of chromosome material added or duplicated varies significantly between individuals, resulting in diverse signs and symptoms.
Duplications can be classified as distal (occurring near the tip of the chromosome arm), proximal (occurring closer to the center of the chromosome), or telomeric. The indications and symptoms may differ depending on where the duplication is located. It has been shown that when material duplication occurs at the tip of the chromosome, the conditions are often mild. When significant duplications are found (or the centromere is implicated), the infant may suffer greatly. Trisomy occurs when there is total duplication of chromosome 1q; however, this is highly unusual.
What Are the Signs and Symptoms of Chromosome 1q Duplication Syndrome?
The signs and symptoms of chromosome 1q duplication syndrome vary significantly from person to person. The number of genes impacted and the amount of chromosomal material introduced are frequently connected to the severity of signs and symptoms. A slight increase in chromosomal material generally results in milder signs and symptoms. On the other hand, more extensive gains or duplications of chromosome material usually result in severe signs and symptoms. Below are some of the most prevalent indications and symptoms of chromosome 1q duplication syndrome:
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Some children have huge or small heads about their bodies.
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Distinctive facial traits may include a small lower jaw and small chin, low-set ears, and a nose that appears unnatural (making standard glasses challenging to use), while hearing usually is unaffected.
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Small stature.
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Dental defects such as early or late tooth eruption and severe feeding difficulty (including due to abnormal jaw structure).
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A palate that is high, narrow, and split (cleft).
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The hand and foot joints can be bent or fastened.
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The presence of unique hands and feet (such as slender hands, conjoined toes, unusual placement of digits, and extra digits).
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Speech and learning problems can vary greatly depending on the amount and location of chromosomal duplication.
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The fontanelle is a soft region on the head or skull that gradually closes.
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The presence of extra cerebrospinal fluid around the brain, known as hydrocephalus, is a common occurrence.
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Cardiac anomalies can occur.
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This might cause chest pain, shortness of breath, dizziness, fainting, palpitations, and fatigue.
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Cardiomyopathy with hypertrophy may occur.
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The syndrome of Wolff-Parkinson-White.
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Patent foramen ovale (PFO) and patent ductus arteriosus (PDA) are structural defects (PDA).
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Right ventricle with two outlets.
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The aorta is constricted.
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An atrial septal defect (a condition causing a hole in the walls of the heart).
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Thoracic stenosis
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Tetralogy of Fallot is a heart condition characterized by four defects - sub-pulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy.
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The Ebstein anomaly is an uncommon congenital heart condition in which the tricuspid valve leaks blood into the right atrium.
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Some children have seizures.
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Abnormalities of the digestive system are seen.
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Malrotation of the intestine.
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The esophagus is constricted.
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Strabismus is a common symptom of vision impairment caused by optic nerve abnormalities and other anatomical disorders.
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Some boys may have genital malformations such as undescended testicles, micropenis, hypospadias, and an atypical scrotum.
What Is the Diagnosis of Chromosome 1q Duplication Syndrome?
Some youngsters may go untreated for the rest of their lives. Specialized tests are required to confirm the disease. The following information is used to diagnose 1q duplication syndrome:
Comprehensive physical examination and medical history review, including family medical history. Evaluation of the presenting signs and symptoms related to -
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Vision.
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Hearing.
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Kidneys.
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Heart.
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Muscles.
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Central nervous system.
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Reproductive organs.
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Immune system.
What Are the Potential Consequences of Chromosome 1q Duplication Syndrome?
When anomalies (large duplications) involving the centromere are discovered, serious birth problems and reduced life expectancy are discovered. This could also lead to fetal mortality during pregnancy. Chromosome 1q duplication syndrome can lead to the following complications:
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Complications in pregnancy.
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Inability to thrive.
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A weak immune system makes a person extremely vulnerable to respiratory tract diseases.
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Walking milestone achievement may occur at the age of 24 months.
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Severe hydrocephalus can induce brain tissue shrinkage.
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Chiari malformation occurs when a portion of the brain protrudes into the spinal column.
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Loss of vision (partial or total blindness).
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Malnutrition caused by poor suckling results in poor growth.
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Pituitary gland dysfunction.
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Abnormalities of the kidneys and urinary tracts include a single kidney, undersized or malformed kidneys, and ureteral blockage.
What Is the Treatment for Chromosome 1q Duplication Syndrome?
Because chromosome 1q duplication syndrome is a genetic disorder, there is no cure. Treatment is usually administered to address the signs and symptoms and any complications. It is also affected by the intensity of the signs and symptoms and the physiological systems affected. Individuals with mild signs and symptoms may need to be monitored regularly without requiring significant medical intervention. Pediatricians, ophthalmologists, otolaryngologists, neurologists, internists, cardiologists, endocrinologists, surgeons, and other healthcare professionals are frequently involved in the condition's management.
What Is the Prognosis of Chromosome 1q Duplication Syndrome?
The prognosis of chromosome 1q duplication syndrome depends upon the severity of the signs, symptoms, or any accompanying problems. It can be measured individually, but it is often difficult to forecast, especially over time. Children with moderate problems (typically caused by tiny duplications) can cope well as they grow older with adequate treatment and adaptive behaviors. Heart problems, seizures, recurring infections, motor abilities, communication, and behavioral disorders can resolve or improve with time. However, children typically require medical attention and support for the rest of their lives. It is stated that growth progression is dependent on proper feeding and the severity of heart abnormalities.
What Can be Done to Prevent Chromosome 1q Duplication Syndrome?
In some rare circumstances, the illness may be familial, which means it runs in families. Suppose genetic chromosome testing of the expecting parents (associated family members) and prenatal diagnosis (molecular testing of the fetus to determine the health and condition during pregnancy) are available. In that case, they may help better understand the risks during pregnancy if the illness runs in the family, and genetic counseling helps determine risks before birth.
Conclusion:
Chromosome 1q duplications are chromosome abnormalities caused by an additional copy of genetic material on chromosome one long arm (q). The severity of the illness, as well as the indications and symptoms, are determined by the size and position of the duplication, as well as the genes implicated. Developmental delay and learning impairments, delayed growth and short stature, numerous birth problems (such as cleft palate or a heart defect), and certain facial traits are all possible in people with chromosome 1q duplications (such as a small, receding jaw). Most cases are not inherited from a parent, but a person with the duplication can pass it on to their children.
