chromosome 2q37 deletion syndrome

Chromosome 2q37 Deletion Syndrome: A Rare Chromosomal Disorder

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder caused by the deletion of a small piece of genetic material from the long arm (q) of chromosome 2, specifically at band 2q37. This deletion can vary in size among affected individuals, ranging from 2 million to 9 million DNA building blocks.

Characteristics and Features

People with chromosome 2q37 deletion syndrome may exhibit a range of clinical features, including:

• Developmental Delay: Most affected individuals experience developmental delay or intellectual disability.
• Skeletal Malformations: Brachydactyly (short fingers), short stature, and joint hypermobility are common skeletal abnormalities.
• Facial Dysmorphism: Characteristic facial features may include a flat face, small nose, and prominent forehead.
• Behavioral Abnormalities: Autistic behavior, obesity, and specific behavioral patterns have been reported in some cases.

Other Features

In addition to the above-mentioned characteristics, individuals with chromosome 2q37 deletion syndrome may also experience:

• Weak muscle tone (hypotonia) at birth, which often improves with age
• Short stature
• Obesity
• Abnormal kidney development (Wilms tumor)
• Specific facial features

Prevalence and Causes

The exact prevalence of chromosome 2q37 deletion syndrome is unknown, but at least 115 cases have been reported worldwide. This condition is caused by deletions of genetic material from a specific region in the long arm of chromosome 2.

References:

[1] The first report of this disorder was in 1989 [4]. [2] Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes [5, 14]. [3] Brachydactyly type E (BDE), affecting the metacarpals and metatarsals, is a common feature in about 50% of patients [14].

Characteristics of Chromosome 2q37 Deletion Syndrome

Individuals with chromosome 2q37 deletion syndrome may exhibit a range of physical and behavioral characteristics.

• Facial Features: A prominent forehead, low frontal hairline, thin eyelids, skin tags, and other characteristic facial features are common in people with this condition [3][5].
• Skin Disorders: Some affected individuals have an inflammatory skin disorder called eczema, as well as other unusual skin features [1].
• Skeletal Malformations: Brachydactyly type E (BDE), affecting the metacarpals and metatarsals, is a common feature in about 50% of patients [10].
• Developmental Delay: Developmental delay is one of the major clinical findings associated with chromosome 2q37 deletion syndrome [8].
• Behavioral Disorders: Behavioral disorders are common and may include repetitive behavior, severe communication and social interaction deficits, stereotypic movements, intermittent explosive disorder, and other behavioral issues [4].

Other Possible Features

In addition to these characteristic features, some individuals with chromosome 2q37 deletion syndrome may also experience:

• Unusual spacing between the fingers and toes
• Narrow, webbed fingers or toes
• Short stature
• Mild to moderate intellectual disability

It's essential to note that each individual with chromosome 2q37 deletion syndrome may exhibit a unique combination of these features.

Diagnostic Tests for Chromosome 2q37 Deletion Syndrome

Chromosome 2q37 deletion syndrome can be diagnosed through various genetic tests that analyze a patient's DNA to detect the presence of the deletion. Here are some diagnostic tests used to confirm the condition:

• High-resolution cytogenetic analysis: This test is recommended when patients are suspected of having a 2q37 deletion [4]. It involves examining cells from a blood sample under a microscope to identify any chromosomal abnormalities.
• Microarray Comparative Genomic Hybridization (aCGH): This test can detect deletions and duplications in the genome, including those affecting chromosome 2q37 [11].
• Multiplex Ligation-dependent Probe Amplification (MLPA): MLPA is a diagnostic test that can be used to confirm the presence of a 2q37 deletion. It involves amplifying specific DNA sequences to detect any deletions or duplications [11].
• Genetic testing: Genetic testing, such as PCR (Polymerase Chain Reaction) and sequencing, can be used to analyze a patient's DNA and confirm the presence of a 2q37 deletion.
• Chromosomal analysis: This test involves examining cells from a blood sample under a microscope to identify any chromosomal abnormalities.

Additional Testing

In addition to these diagnostic tests, additional testing may be done to assess the specific genes involved in the deletion and to determine the extent of any associated health problems. This can include:

• Genetic counseling: Genetic counselors can provide information about the condition, its inheritance pattern, and the risks of passing it on to offspring.
• Physical examination: A physical examination can help identify any physical abnormalities or symptoms associated with the condition.

References

[4] Cho EK (2017). Chromosome 2q37 deletion syndrome. Cited by 10.

[11] OMIM (Online Mendelian Inheritance in Man) - 2q37 microdeletion/deletion syndrome (2q37DS)

Note: The above information is based on the search results provided and may not be an exhaustive list of diagnostic tests for chromosome 2q37 deletion syndrome.

Treatment Options for Chromosome 2q37 Deletion Syndrome

Chromosome 2q37 deletion syndrome is a rare genetic disorder that can affect various aspects of an individual's development and health. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve the quality of life.

• Developmental Delay and Intellectual Disability: Early intervention programs, such as speech therapy, occupational therapy, and physical therapy, can help individuals with 2q37 deletion syndrome develop their cognitive and motor skills.
• Skeletal Malformations: Treatment for skeletal malformations may involve orthopedic surgery to correct joint or bone abnormalities. In some cases, bracing or other supportive devices may be necessary to manage symptoms.
• Hearing Loss: Individuals with 2q37 deletion syndrome who experience hearing loss may benefit from the use of hearing aids or cochlear implants.
• Seizure Control: Anticonvulsant medication and a ketogenic diet can help control seizures associated with this condition.
• Obesity and Hypotonia: A healthy diet and regular exercise can help manage obesity and improve muscle tone. In some cases, physical therapy may be necessary to strengthen muscles and improve mobility.

Genetic Counseling

Genetic counseling is an essential part of managing chromosome 2q37 deletion syndrome. Genetic counselors can provide families with information about the condition, its inheritance pattern, and the risks of passing it on to future generations. They can also help families make informed decisions about reproductive options and prenatal testing.

Multidisciplinary Care

A multidisciplinary team of healthcare professionals, including geneticists, pediatricians, neurologists, orthopedic specialists, and therapists, can provide comprehensive care for individuals with chromosome 2q37 deletion syndrome. This team approach ensures that all aspects of the condition are addressed, and individuals receive the best possible treatment and support.

Research and Emerging Therapies

Researchers are actively exploring new treatments and therapies for chromosome 2q37 deletion syndrome. Some emerging areas of research include:

• Gene therapy to correct genetic mutations associated with this condition
• Stem cell therapy to repair or replace damaged cells and tissues
• Targeted pharmacological interventions to manage specific symptoms and complications

While these emerging therapies hold promise, they are still in the early stages of development. Further research is needed to determine their safety and efficacy.

Conclusion

Chromosome 2q37 deletion syndrome is a complex condition that requires a comprehensive treatment approach. By working with a multidisciplinary team of healthcare professionals and staying up-to-date on emerging therapies, individuals with this condition can receive the best possible care and support.

Differential Diagnosis of Chromosome 2q37 Deletion Syndrome

Chromosome 2q37 deletion syndrome, also known as Albright's hereditary osteodystrophy-like syndrome, is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits, and other physical abnormalities. When diagnosing this condition, it is essential to consider differential diagnoses that may present similar symptoms.

Other Segmental Aneusomy Syndromes

• Other segmental aneusomy syndromes should be considered in the differential diagnosis of chromosome 2q37 deletion syndrome [3].
• These conditions involve deletions or duplications of specific chromosomal segments, which can lead to various physical and developmental abnormalities.

Prader-Willi Syndrome

• Prader-Willi syndrome is another condition that may present similar symptoms to chromosome 2q37 deletion syndrome [3].
• This genetic disorder is characterized by severe intellectual disability, short stature, and obesity, among other features.

Differential Diagnosis Considerations

When considering differential diagnoses for chromosome 2q37 deletion syndrome, it is essential to take into account the presence of facial dysmorphism, developmental delay, and other physical abnormalities [4], [5], [12], [14].

• High-resolution cytogenetic analysis is recommended when patients are suspected of having a 2q37 deletion [10], [12].
• This diagnostic approach can help confirm the diagnosis and rule out other conditions that may present similar symptoms.

References

[3] - The differential diagnosis should include other segmental aneusomy syndromes and Prader-Willi syndrome. The group of ... (Source: Search Result 3)

[4] - Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in ... (Source: Search Result 4)

[5] - People with the syndrome have lost a small but variable amount of genetic material (DNA) from near the end of one of their two chromosome 2s. This affects their. (Source: Search Result 5)

[10] - Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in ... (Source: Search Result 10)

[12] - Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in ... (Source: Search Result 12)

[14] - Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits ... (Source: Search Result 14)