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chromosome 15q13.3 microdeletion syndrome
ICD-10 Codes
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Description
Chromosome 15q13.3 Microdeletion Syndrome: A Rare Genetic Disorder
Chromosome 15q13.3 microdeletion syndrome is a rare genetic disorder caused by the deletion of several genes on chromosome 15, specifically in the q13.3 region [2]. This condition is also known as a microdeletion syndrome or contiguous gene deletion syndrome.
Characteristics and Symptoms
Individuals with 15q13.3 microdeletion syndrome may exhibit a range of symptoms, including:
- Intellectual disability: Affected individuals may have intellectual disabilities, ranging from mild to severe [10].
- Epilepsy: The condition is associated with childhood onset absence seizures, which can persist into adolescence and be resistant to treatment [11].
- Behavioral abnormalities: Hyperactivity, attention problems, withdrawal, and externalizing behaviors are common in affected individuals [10].
- Autism: Recurrent 15q13.3 deletions have been enriched in multiple neurodevelopmental conditions, including autism [12].
Genetic Basis
The syndrome is caused by a deletion of several genes on chromosome 15, which can result from nonallelic homologous recombination due to repetitive sequences in the region [6]. This genetic change can lead to the loss of function of critical genes involved in brain development and function.
Prevalence and Diagnosis
Studies suggest that the syndrome is under-diagnosed, with an estimated prevalence of 1 in 5525 live births [14]. Diagnosis typically involves chromosomal analysis and genetic testing to confirm the presence of a microdeletion on chromosome 15q13.3.
References:
[2] November 8, 2021 - Description of 15q13.3 microdeletion syndrome. [6] March 10, 2016 - Chromosome 15q13.3 represents a hotspot for genomic rearrangements due to repetitive sequences mediating nonallelic homologous recombination. [10] by MN Ziats · 2016 · Cited by 59 — Affected individuals exhibited a complex pattern of behavioral abnormalities... [11] The epilepsy phenotype in children with 15q13.3 microdeletion syndrome is defined by childhood onset absence seizures, and may have atypical features such as early onset absences, persistence into adolescence, status epilepticus, intellectual disability and treatment resistance. [12] Recurrent 15q13.3 deletions are enriched in multiple neurodevelopmental conditions including intellectual disability, autism, epilepsy, and schizophrenia... [14] May 18, 2019 - Presence of homozygous microdeletions...
Additional Characteristics
- Chromosome 15q13.3 microdeletion syndrome
- a rare genetic disorder caused by the deletion of several genes on chromosome 15
- characterized by intellectual disability, epilepsy, behavioral abnormalities, and autism
Signs and Symptoms
Chromosome 15q13.3 Microdeletion Syndrome: Signs and Symptoms
Individuals with chromosome 15q13.3 microdeletion syndrome may exhibit a range of signs and symptoms, which can vary in severity and presentation.
- Intellectual Disabilities: Some people with this condition may experience mild to moderate intellectual disabilities, learning delays, or normal intelligence [2].
- Autism Spectrum Disorders: Features of autism spectrum disorders, such as social interaction difficulties and repetitive behaviors, may also be present [7][8].
- Epilepsy: Seizures and epileptic encephalopathy have been reported in individuals with homozygous deletions in this region [6].
- Developmental Delay: Developmental delay or intellectual disability can occur, often accompanied by autism spectrum disorder features [8].
- Behavioral Issues: Affected individuals may exhibit behavioral issues, including attention problems, hyperactivity, withdrawal, and externalizing behaviors [9].
Additionally, some people with chromosome 15q13.3 microdeletion syndrome may experience:
- Heart Defects: Heart defects have been reported in association with this condition.
- Minor Abnormalities: Minor abnormalities involving the hands and arms, as well as subtle differences in facial features, can occur [4].
- Incurving Little Fingers: Incurving little fingers (5th finger clinodactyly) is a feature that is very common in people with a chromosome disorder, including those with 15q13.3 microdeletion syndrome [3].
It's essential to note that the signs and symptoms of chromosome 15q13.3 microdeletion syndrome can vary widely among affected individuals, and some may not exhibit any noticeable features at all [4].
Additional Symptoms
- Epilepsy
- Developmental Delay
- Intellectual Disabilities
- Heart Defects
- Behavioral Issues
- Autism Spectrum Disorders
- Minor Abnormalities
- Incurving Little Fingers
Diagnostic Tests
Diagnostic Tests for Chromosome 15q13.3 Microdeletion Syndrome
Chromosome 15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion on the long arm of chromosome 15. Diagnostic tests are essential to confirm the presence of this condition, especially in individuals with symptoms or family history.
Cytogenetics Tests:
- Fluorescence In Situ Hybridization (FISH) [1]: This test uses fluorescent probes to detect specific DNA sequences on chromosome 15. FISH can identify deletions and other chromosomal abnormalities.
- Molecular Genetics Tests: These tests involve analyzing the genetic material to confirm the presence of a microde
Additional Diagnostic Tests
- Molecular Genetics Tests
- Fluorescence In Situ Hybridization (FISH)
Treatment
Current Treatment Options for Chromosome 15q13.3 Microdeletion Syndrome
Unfortunately, there is no consistent treatment for chromosome 15q13.3 microdeletion syndrome [9]. However, various studies and medical professionals suggest the following approaches to manage the symptoms and improve the quality of life for individuals with this condition:
- Early Educational Interventions: Early educational interventions are recommended in patients with 15q13.3 microdeletion syndrome [4]. This can help address neurodevelopmental disorders and improve cognitive function.
- Targeted Therapy: Targeted therapy, such as galantamine, may be considered on a case-by-case basis for individuals with specific symptoms or conditions associated with the microdeletion [3].
- Multidisciplinary Approach: A multidisciplinary approach involving healthcare professionals from various specialties (e.g., neurology, psychology, education) can provide comprehensive care and support for individuals with 15q13.3 microdeletion syndrome.
- Genetic Counseling: Genetic counseling is essential to inform families about the condition, its implications, and available resources.
Important Considerations
It's crucial to note that each individual with chromosome 15q13.3 microdeletion syndrome is unique, and treatment plans should be tailored to their specific needs [6]. Additionally, there may be variations in symptoms and severity among affected individuals.
References:
[3] Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome. [4] 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. [6] The 15q13.3 deletion syndrome encompasses a heterogeneous behavioral phenotype that poses a major challenge to parents, caregivers, and treating professionals. [9] Currently, there is no consistent treatment for 15q13.3 microdeletion syndrome. CHRNA7, encoding for the α7 nicotinic acetylcholine receptor...
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Differential Diagnosis
Differential diagnosis for chromosome 15q13.3 microdeletion syndrome involves ruling out other causes of intellectual deficit, schizophrenia, autism, and epilepsy.
The differential diagnosis for this condition includes:
- Intellectual deficit: This can be caused by various genetic conditions, including Down syndrome, Fragile X syndrome, and other chromosomal abnormalities.
- Schizophrenia: This is a mental health disorder that can be caused by a combination of genetic and environmental factors.
- Autism: This is a neurodevelopmental disorder characterized by difficulties with social interaction, verbal and nonverbal communication, and repetitive behaviors.
- Epilepsy: This is a neurological disorder characterized by recurrent seizures.
According to search result [3], differential diagnosis for chromosome 15q13.3 microdeletion syndrome includes ruling out other causes of intellectual deficit, schizophrenia, autism, and epilepsy.
The proximal portion of chromosome 15q is an highly unstable genomic region, which can lead to various genetic abnormalities, including microdeletions (search result [8]).
Recurrent 15q13.3 deletions are enriched in multiple neurodevelopmental conditions, including intellectual disability, autism, epilepsy, and schizophrenia (search result [7]).
Additional Differential Diagnoses
- Autism
- Intellectual deficit
- epilepsy
- schizophrenia
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.