1q21.1 deletion syndrome

1q21.1 deletion syndrome is a rare genetic disorder that results from a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 1 at a location designated q21.1. The signs and symptoms of 1q21.1 deletion syndrome are highly variable, even among affected individuals in the same family.

Signs and Symptoms

Common signs and symptoms of 1q21.1 deletion syndrome include mild to moderate intellectual disability, microcephaly (small head size), and characteristic facial features. These facial features can include a large forehead, widely spaced eyes, a narrow face, and a pointed chin. Some affected individuals have heart defects, such as tetralogy of Fallot or an atrial septal defect.

Causes

1q21.1 deletion syndrome is caused by a deletion of genetic material from a specific region in the long arm of chromosome 1. The deletion occurs near the end of the chromosome at a location designated q21.1. This region contains several genes that likely contribute to the features of 1q21.1 deletion syndrome.

Diagnosis

Diagnosis of 1q21.1 deletion syndrome is typically made through a blood test that can detect small deletions in chromosomes that would not be seen using traditional karyotyping techniques. This test is called microarray-based comparative genomic hybridization (aCGH).

Treatment

There is currently no cure for 1q21.1 deletion syndrome. Treatment is symptomatic and supportive, focusing on the specific symptoms in each individual. This can include educational support for those with learning disabilities, therapy for speech and language delays, and regular monitoring for potential health complications.

See Also

• Chromosome Deletion
• Genetic Disorders
• Microcephaly
• Tetralogy of Fallot
• Atrial Septal Defect

References

1q21.1 deletion syndrome Resources
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