chromosome 17p13.3 duplication syndrome

Chromosome 17p13.3 Duplication Syndrome: A Rare Genetic Disorder

Chromosome 17p13.3 duplication syndrome is a rare genetic disorder characterized by the presence of an extra copy of the short arm band 17p13.3 on chromosome 17 [7]. This condition is also known as 17p13 microduplication syndrome.

Symptoms and Characteristics

People with chromosome 17p13.3 duplication syndrome may exhibit a range of symptoms, including:

• Developmental delay: Most individuals with this condition experience significant delays in development, affecting their cognitive, motor, and speech skills [4][5].
• Intellectual disability: Many people with chromosome 17p13.3 duplication syndrome have intellectual disabilities, ranging from mild to severe [4].
• Speech delay: Speech development is often delayed or impaired in individuals with this condition [4].
• Dysmorphic features: Some people may exhibit physical abnormalities, such as dysmorphic features, which can vary in severity [3][6].

Prevalence and Diagnosis

The prevalence of chromosome 17p13.3 duplication syndrome is relatively low, but it is essential to diagnose this condition accurately to provide appropriate care and support for affected individuals.

References:

• [7] Group 3: People who have an extra copy of the short arm band 17p13. This is called 17p13 microduplication syndrome and may be an interstitial duplication of chromosome 17.
• [4] People with 17p13.3 duplication syndrome had developmental delay or intellectual disability and speech delay. 10 out of 13 people had developmental delay (77%).
• [5] The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/ intellectual disability.
• [6] 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
• [3] 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

Chromosome 17p13.3 Duplication Syndrome: Signs and Symptoms

Chromosome 17p13.3 duplication syndrome is a rare genetic disorder characterized by variable psychomotor delay and dysmorphic features. The symptoms can vary in severity and may include:

• Developmental Delay: Children with this condition often experience delays in reaching developmental milestones, such as sitting, standing, or walking [1].
• Intellectual Disability: Some individuals with chromosome 17p13.3 duplication syndrome may have intellectual disabilities, which can range from mild to severe [2].
• Low Muscle Tone (Hypotonia): Affected individuals may exhibit low muscle tone, making it difficult for them to maintain posture or move around [3].
• Autism: There is a higher incidence of autism spectrum disorder in individuals with chromosome 17p13.3 duplication syndrome [4].
• Brain Changes Observed on MRI: Magnetic resonance imaging (MRI) scans may reveal changes in the brain structure, which can be associated with this condition [5].
• Intrauterine Growth Restriction: Some cases have been reported to experience intrauterine growth restriction, leading to small stature [6].

Additionally, individuals with chromosome 17p13.3 duplication syndrome may exhibit unusual facial features, such as:

• Hypertelorism (increased distance between the eyes)
• Posteriorly Rotated Ears
• Short Nose
• Small Mouth

It's essential to note that each individual with chromosome 17p13.3 duplication syndrome may experience a unique combination of symptoms, and the severity can vary greatly [7].

References:

[1] Context result 2 [2] Context result 8 [3] Context result 5 [4] Context result 6 [5] Context result 2 [6] Context result 4 [7] Context result 9

Chromosome 17p13.3 duplication syndrome can be diagnosed through various genetic tests.

• Genetic testing [1] is a crucial diagnostic tool for identifying the chromosomal duplication. This test involves analyzing DNA samples to detect the presence of the duplicated region on chromosome 17.
• FISH (Fluorescence In Situ Hybridization) [7] can also be used to identify microdeletions or duplications of chromosome 17p13.3. FISH is a laboratory technique that uses fluorescent probes to detect specific DNA sequences in cells.

In some cases, additional tests may be necessary to confirm the diagnosis and rule out other conditions. However, genetic testing and FISH are primary diagnostic tools for chromosome 17p13.3 duplication syndrome.

It's worth noting that early detection through genetic testing can provide valuable information for families with a history of the condition [5]. As access to genetic testing improves, scientists expect to find more people who have this syndrome [5].

References: [1] JD Da Silva · 2022 · Cited by 1 [7] SM Blazejewski · 2018 · Cited by 79 [5] by CJ Curry · 2013 · Cited by 78

Treatment Options for Chromosome 17p13.3 Duplication Syndrome

Chromosome 17p13.3 duplication syndrome is a rare genetic disorder characterized by variable psychomotor delay and dysmorphic features [3]. While there is no specific treatment for this condition, various interventions can help manage its symptoms.

• Developmental Delays: Children with chromosome 17p13.3 duplication syndrome often experience global developmental delays [1]. Early intervention programs, such as physical therapy, occupational therapy, and speech therapy, can help improve their cognitive and motor skills.
• Learning Difficulties: Individuals with this condition may have mild to moderate learning difficulties [4]. Educational accommodations, such as individualized education plans (IEPs), can help them access the educational resources they need.
• Behavioral Issues: Some people with chromosome 17p13.3 duplication syndrome may exhibit behavioral issues, such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder [6]. Behavioral therapies, like applied behavior analysis (ABA), can be effective in managing these symptoms.
• Medical Complications: Individuals with this condition are at risk for various medical complications, including sleep apnea, seizures, and cardiovascular problems [7]. Regular health check-ups and monitoring by a healthcare professional can help identify and manage these issues early on.

While there is no specific drug treatment for chromosome 17p13.3 duplication syndrome, medications may be prescribed to address related symptoms, such as ADHD or anxiety disorders. However, the use of any medication should be discussed with a healthcare professional to ensure it is safe and effective for the individual.

References:

[1] JD Da Silva (2022) - The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/ ...

[3] 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

[4] Those children with 17p13 duplication syndrome have so far also been shown to have mild to moderate learning difficulties (Roos 2009).

[6] by S Vittas · 2023 — 17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication ...

[7] by SM Blazejewski · 2018 · Cited by 79 — Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases.

Chromosome 17p13.3 duplication syndrome is a rare genetic disorder characterized by a duplication of the short arm of chromosome 17, specifically in the p13.3 region. When considering differential diagnosis for this condition, several other genetic disorders and syndromes should be taken into account.

• Miller-Dieker syndrome: This is a rare autosomal genetic disorder caused by a deletion of the 17p13.3 chromosome region [9]. While it's a deletion rather than a duplication, Miller-Dieker syndrome shares some clinical features with chromosome 17p13.3 duplication syndrome, such as developmental delay and intellectual disability.
• Lissencephaly sequence (ILS): ILS is a rare genetic disorder caused by microdeletions within the 17p13.3 region [4]. Like Miller-Dieker syndrome, it's associated with severe intellectual disability and often accompanied by other physical abnormalities.
• Split-hand/foot malformation with long bone deficiency 3 (SHFLD3): This is a rare genetic disorder caused by duplications of the short arm of chromosome 17, including the p13.3 region [7]. While it's not exclusively associated with intellectual disability, SHFLD3 can present with limb abnormalities and developmental delays.
• Ectrodactyly: Duplication of segment p13.3 on the short arm of chromosome 17 has been linked to ectrodactyly, a rare type of limb malformation [5]. This condition is characterized by the absence or duplication of fingers or toes.

When differentiating between these conditions and chromosome 17p13.3 duplication syndrome, clinicians should consider the specific clinical features presented by each patient. For instance:

• Developmental delay or intellectual disability are common in both Miller-Dieker syndrome and chromosome 17p13.3 duplication syndrome [2][9].
• Limb abnormalities, such as ectrodactyly, can be present in SHFLD3 and chromosome 17p13.3 duplication syndrome [5][7].
• Severe intellectual disability is a hallmark of ILS, which may also involve microdeletions within the 17p13.3 region [4].

A comprehensive diagnostic evaluation, including genetic testing and clinical assessment, is essential for accurately diagnosing chromosome 17p13.3 duplication syndrome and distinguishing it from other related conditions.

References: [2] - by B Liang · 2022 · Cited by 2 — Miller–Dieker syndrome (MDS) is a rare autosomal genetic disorder caused by a ~ 1.3 Mb deletion of the 17p13.3 chromosome region, which contains ... [4] - by SM Blazejewski · 2018 · Cited by 79 — Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are ... [5] - by L Cassenti — Duplication of segment p13.3 on the short arm of chromosome 17 causes a relatively rare type of limb malformations called ectrodactyly. [7] - CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME · SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3 · ▽ TEXT · ▻ Clinical Features · ▻ Mapping. [9] - by B Liang · 2022 · Cited by 2 — Miller–Dieker syndrome (MDS) is a rare autosomal genetic disorder caused by a ~ 1.3 Mb deletion of the 17p13.3 chromosome region, which contains ...