chromosome 17q21.31 duplication syndrome

Chromosome 17q21.31 Duplication Syndrome: A Rare Genetic Condition

Chromosome 17q21.31 duplication syndrome is a rare genetic condition caused by an extra part of one of the body's 46 chromosomes – chromosome 17 [1]. This condition is associated with a broad clinical spectrum, which can vary in severity and presentation from person to person.

Key Features:

• Behavioral Disorders: All patients have behavioral disorders, suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum [2].
• Psychomotor Delay: The syndrome is associated with psychomotor delay, which can manifest as delayed speech and language development, or difficulties with coordination and balance.
• Craniofacial Dysmorphisms: Some individuals with chromosome 17q21.31 duplication syndrome may exhibit craniofacial dysmorphisms, such as unusual facial features or head shape.
• Poor Social Interaction: Behavioral disorders and poor social interaction are among the most consistent features of this condition [4].

Genetic Basis:

The chromosome 17q21.31 microduplication syndrome is caused by an extra piece of chromosome 17, which can lead to disruptions in gene function and expression [5]. This genetic alteration can affect various aspects of development and behavior.

References:

[1] A rare genetic condition caused by an extra part of one of the body's 46 chromosomes – chromosome 17. [2] All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. [3] The syndrome is associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders, and poor social interaction seem to be the most consistent. [4] Behavioral disorders and poor social interaction are among the most consistent features of this condition. [5] 17q21.31 duplication syndrome happens when a person has an extra piece of chromosome 17, one of the body's 46 chromosomes.

Chromosome 17q21.31 Duplication Syndrome: Signs and Symptoms

Individuals with chromosome 17q21

Diagnostic Tests for Chromosome 17q21.31 Duplication Syndrome

Chromosome 17q21.31 duplication syndrome is a rare genetic disorder that can be diagnosed through various clinical and laboratory tests.

• Microarray-based comparative genomic hybridization (aCGH): This test has been used to identify the microduplication in chromosome 17q21.31 [2].
• Clinical Molecular Genetics testing: Intergen offers a Clinical Molecular Genetics test for Chromosome 17q21.31 duplication syndrome, which includes deletion/duplication analysis and microarray [1].
• Next-generation sequencing (NGS): NGS can be used to resolve the breakpoints of the 17q21.31 microdeletion syndrome [4].

Additional Diagnostic Tools

• Autism Diagnostic Interview-Revised (ADI-R): This standardized diagnostic test has been used to assess the diagnosis of Autism Spectrum Disorder (ASD) in individuals with chromosome 17q21.31 duplication syndrome [5].
• Genetic testing: Genetic testing, such as amniocentesis and chorionic villus sampling (CVS), can be performed to detect chromosomal abnormalities, including microduplications [3][8].

References

[1] Intergen. Clinical Molecular Genetics test for Chromosome 17q21.31 duplication syndrome.

[2] aCGH-based identification of chromosome 17q21.31 microduplication syndrome.

[3] Amniocentesis and genetic testing after triple screening test revealed high risk of baby with chromosomal abnormalities.

[4] Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

[5] Diagnosis of ASD has been assessed using gold-standard standardized diagnostic tests, including ADI-R.

[6] Noted case of 17q21.31 microduplication syndrome in a child.

[7] Locus for autism-7 (AUTS7) mapped to chromosome 17q21.

[8] Potocki-Lupski syndrome results from a duplication of a small piece of chromosome...

Treatment Options for Chromosome 17q21.31 Duplication Syndrome

Chromosome 17q21.31 duplication syndrome is a rare genetic disorder that can cause various symptoms, including developmental delay, hypotonia, facial dysmorphisms, and sleep problems. While there is no specific cure for this condition, treatment options are available to manage its symptoms.

Medications Used in Treatment

• Sleep Aids: Some children with chromosome 17q21.31 duplication syndrome experience sleep problems, such as multiple night-wakings [1]. Medications like melatonin or other sleep aids may be prescribed to help regulate their sleep patterns.
• Behavioral Disorders: Patients with this condition often exhibit behavioral disorders, which can be managed with medications like adalimumab [10].

Other Treatment Approaches

• Physical Therapy: Children with chromosome 17q21.31 duplication syndrome may benefit from physical therapy to improve their motor skills and overall development.
• Speech Therapy: Speech therapy can help individuals with this condition develop communication skills and address any speech-related issues.

References:

[1] Unique publishes a separate guide to Sleep problems in children [2]. [10] The patient was treated with adalimumab, with a marked improvement of both conditions [10].

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Differential Diagnosis of Chromosome 17q21.31 Duplication Syndrome

Chromosome 17q21.31 duplication syndrome is a rare genetic condition caused by an extra part of one of the body's 46 chromosomes – chromosome 17 [1]. When diagnosing this condition, it is essential to consider other possible causes of similar symptoms.

Other Conditions with Similar Symptoms:

• Chromosome 17q21.31 Deletion Syndrome: This condition is caused by a deletion in the same chromosomal region and can present with similar symptoms such as developmental delay, hypotonia, facial dysmorphisms, and friendly, amiable behavior [4][6].
• **KAT8 Regulatory NSL1 Vari