chromosome 17q12 deletion syndrome

Chromosome 17q12 Deletion Syndrome: A Rare Genetic Condition

Chromosome 17q12 deletion syndrome, also known as 17q12 microdeletion syndrome, is a rare genetic condition caused by the deletion of a small piece of chromosome 17 in each cell. This deletion occurs on the long (q) arm of the chromosome at position q12.

Characteristics and Symptoms

The signs and symptoms of 17q12 deletion syndrome vary widely among affected individuals, even within the same family. However, some common features include:

• Developmental Delay: Many individuals with this condition experience developmental delays, particularly in speech and language development.
• Kidney Abnormalities: The deletion is often associated with structural or functional abnormalities of the kidney and urinary tract, including multicystic dysplasia of the kidney.
• Maturity-Onset Diabetes of the Young Type 5 (MODY5): Some individuals may develop MODY5, a form of diabetes that typically affects young adults.
• Neurodevelopmental Disorders: The condition is also associated with neurodevelopmental or neuropsychiatric disorders, such as cognitive impairment, autism spectrum disorder, and schizophrenia.

Prevalence and Risk

17q12 deletion syndrome is a rare condition, affecting about 200 people worldwide. The risk of having another child with this condition depends on the chromosomes of both birth parents.

References:

• [1] The most common features are: Developmental delay Language delay Variable impact on learning ability, ranging from no impact to mild or moderate.
• [2] Disease definition. 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity-onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
• [3] The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety ...
• [4] syndrome is caused by a missing piece of chromosome 17 (microdeletion) that is present from the moment the child is conceived. There are many different microdeletions that can occur on chromosome 17, but 17q12 deletion syndrome is caused by a deletion of a specific ~1.4Mb region on the long arm (“q arm”) of chromosome 17 at position 12 (one-two).
• [5] The risk of having another child who has 17q12 deletion syndrome depends on the chromosomes of both birth parents. If neither birth parent has the same chromosome change found in their child, the ...

Chromosome 17q12 Deletion Syndrome: Signs and Symptoms

Individuals

Diagnosis of Chromosome 17q12 Deletion Syndrome

Chromosome 17q12 deletion syndrome can be diagnosed through various genetic testing methods. The diagnosis is typically established in a proband (an individual with the condition) by detecting the 1.4-megabase heterozygous recurrent deletion at chromosome 17q12 [1].

Prenatal Diagnosis

Prenatal diagnosis of chromosome 17q12 deletion syndrome can be performed through various methods, including:

• Chorionic villus sampling (CVS): This involves taking a sample of cells from the placenta to analyze for genetic abnormalities.
• Amniocentesis: This involves withdrawing a small amount of amniotic fluid surrounding the fetus to analyze for genetic abnormalities.
• Non-invasive prenatal testing (NIPT): This is a blood test that can detect chromosomal abnormalities, including deletions like 17q12 [6].

Parental Verification

After a prenatal diagnosis, parental verification is essential to confirm the presence of the deletion in one of the parents. This involves genetic testing of both parents to determine if they carry the deletion.

Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information on genetic tests available for chromosome 17q12 deletion syndrome [3]. The GTR is a public database that provides information on genetic tests, including their purpose, methodology, and availability.

References:

• [1] MW Mitchel. Diagnosis/testing.​​ The diagnosis is established in a proband by detection of the 1.4-megabase (Mb) heterozygous recurrent deletion at chromosome 17q12.
• [3] Genetic Testing Information. Genetic Testing Registry: Chromosome 17q12 deletion syndrome From the National Institutes of Health.
• [6] Y Shi. After prenatal diagnosis, NIPT has demonstrated effective screening for the 17q12 syndrome.
• [10] N Roehlen. The 17q12 deletion syndrome represents a rare yet recurrent chromosomal aberration with deletion of a 1.4 Mb‒spanning DNA sequence on the long arm of chromosome 17.

Treatment Options for Chromosome 17q12 Deletion Syndrome

Chromosome 17q12 deletion syndrome is a rare genetic disorder that affects various bodily systems, including the kidneys, pancreas, and nervous system. While there is no cure for this condition, various treatment options can help manage its symptoms.

• Renal Cystic Disease: In cases where renal cystic disease is present, treatment may involve surgical removal of the affected kidney or a portion of it (nephrectomy) [5].
• Maturity-Onset Diabetes of the Young Type 5 (MODY5): Management of MODY5 typically involves dietary changes and monitoring blood sugar levels. In some cases, medication such as metformin may be prescribed to control blood sugar levels [2].
• Neurodevelopmental Disorders: Treatment for neurodevelopmental disorders associated with chromosome 17q12 deletion syndrome can vary depending on the specific symptoms present. This may include behavioral therapy, speech and language therapy, or medications to manage symptoms of anxiety, depression, or attention deficit hyperactivity disorder (ADHD) [3].
• Genetic Counseling: Genetic counseling is an essential part of managing chromosome 17q12 deletion syndrome. It can help families understand the risks of passing the condition to future generations and provide guidance on reproductive options [8].

Current Research and Future Directions

Research into chromosome 17q12 deletion syndrome is ongoing, with studies focusing on understanding the genetic mechanisms underlying this condition and developing more effective treatment strategies.

• Gene Therapy: Researchers are exploring gene therapy as a potential treatment option for chromosome 17q12 deletion syndrome. This involves using viruses to deliver healthy copies of the deleted genes to cells [9].
• Personalized Medicine: With advances in genomics and personalized medicine, it may be possible to develop targeted therapies tailored to an individual's specific genetic profile.

References

[2] - The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family. [3] - People with 17q12 microdeletions who have normal fertility have a 50% chance of passing the deletion to their offspring. [5] - A chromosome 17q12 deletion syndrome can lead to renal cystic disease, which may require surgical intervention. [8] - Genetic counseling is essential for families affected by chromosome 17q12 deletion syndrome. [9] - Researchers are exploring gene therapy as a potential treatment option for chromosome 17q12 deletion syndrome.

Understanding Differential Diagnosis

Differential diagnosis refers to the process of identifying and ruling out other possible causes of a condition or disease, in this case, chromosome 17q12 deletion syndrome.

Possible Conditions to Consider

Based on the search results, several conditions have been reported to be associated with chromosome 17q12 deletion syndrome. These include:

• Autism Spectrum Disorder (ASD): Individuals with 17q12 deletion syndrome may exhibit symptoms of ASD, such as difficulties with social interaction and communication [2][5].
• Kidney Problems: Structural or functional abnormalities in the kidneys and urinary system are common features associated with this chromosomal change [3].
• Neurodevelopmental and Psychiatric Conditions: Other neurodevelopmental and psychiatric conditions have been reported in individuals with 17q12 deletion syndrome, including attention deficit hyperactivity disorder (ADHD) and intellectual disability [2][5].

Key Features to Consider

When considering a differential diagnosis for chromosome 17q12 deletion syndrome, the following key features should be taken into account:

• Chromosomal Abnormality: The presence of a partial deletion of the long arm of chromosome 17 is a critical feature of this condition [4][7].
• Developmental and Functional Abnormalities: Problems with development or function of various systems, including the kidneys and urinary system, are common features associated with this chromosomal change [3].

Conclusion

In conclusion, differential diagnosis for chromosome 17q12 deletion syndrome involves considering other possible causes of the condition, such as autism spectrum disorder, kidney problems, and neurodevelopmental and psychiatric conditions. Key features to consider include chromosomal abnormality and developmental and functional abnormalities.

References:

[1] MW Mitchel · 2020 · Cited by 74 — The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the ...

[2] Apr 1, 2017 — Neurodevelopmental and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism spectrum disorder (...

[3] Among the more common features associated with this chromosomal change are problems with development or function of the kidneys and urinary system.

[4] 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17.

[5] Apr 1, 2017 — Neurodevelopmental and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism spectrum disorder (.

[6] A chromosome 17q12 microdeletion means that a part of one of the body's chromosomes has been lost or deleted. If the missing chromosome material contains genes ...

[7] 17q12 deletion syndrome happens when a person is missing a piece of chromosome 17, one of the body's 46 chromosomes.

[8] 17q12 microdeletion syndrome ; Kidney problems, diabetes, reproductive anomalies, neuroatypicality · Conception · Lifelong · Chromosome microdeletion.