Chromosome 2q37 Deletion syndrome

What is Chromosome 2q37 Deletion syndrome?

This rare disease is a genetic syndrome which presents with a wide a variety of syndromes and a number of unique, identifying facial features.

The main features of the syndrome affect the bones in the fingers and toes of affected individuals, scoliosis (curvature of the spine), and a short stature.

It has been identified in just 100 people worldwide, to date.

What gene changes cause Chromosome 2q37 Deletion syndrome?

Deletions to the DNA material on chromosome 2 cause the syndrome. The condition is not inherited, and is the result of a random occurrence.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Chromosome 2q37 Deletion syndrome?

The main symptoms of the syndrome are variable, according to the size of the deletion and the deletions of different genes.

Brachydactyly type E, is one of the main characteristics of the syndrome. This is when the bones in the fingers and toes are shortened. It may also present with hypermobility of the joints, and a short stature.

Other common features may include mild to moderate intellectual disability, behavioral issues, scoliosis and unique facial features.

How does someone get tested for Chromosome 2q37 Deletion syndrome?

The initial diagnosis of Chromosome 2q37 Deletion can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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