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chromosome 15q25 deletion syndrome
ICD-10 Codes
Related ICD-10:
Description
Chromosome 15q25 Deletion Syndrome: A Rare Genetic Disorder
Chromosome 15q25 deletion syndrome, also known as 15q25 microdeletion syndrome, is a rare chromosomal disorder caused by the deletion of genetic material on the long arm (q) of chromosome 15. This condition is characterized by intellectual disability and developmental delay.
Key Features:
- Intellectual disability and developmental delay [7][8][9]
- Severe speech and psychomotor delay [5]
- Behavioral problems [5]
- Mild dysmorphic features [5]
- Neurodevelopmental delay, inguinal hernia, chest deformities, and anemia [6]
Causes:
- The deletion occurs as a random event (de novo) in most cases [10]
- The deletion involves the 15q25.2 genetic locus [3][11]
Prevalence:
- Very rare, with only a few reported cases [6]
Clinical Resource:
- Information about Chromosome 15q25 deletion syndrome and its clinical features are available from various online resources, including GeneReviews, PubMed, MedlinePlus, and clinicaltrials.gov [11]
Note: The information provided is based on the search results and may not be comprehensive or up-to-date. If you need more information or clarification, please let me know!
Additional Characteristics
- Anemia
- Neurodevelopmental delay
- Inguinal hernia
- Intellectual disability
- Developmental delay
- Behavioral problems
- Severe speech and psychomotor delay
- Mild dysmorphic features
- Chest deformities
Signs and Symptoms
Chromosome 15q25 deletion syndrome is a rare genetic disorder caused by a small piece of chromosome 15 being missing at location q25.2. The signs and symptoms of this condition can vary, but they often include:
- Mild to moderate intellectual disability and developmental delay [1]
- Neurodevelopmental delay [2]
- Inguinal hernia
- Chest deformities
- Anemia
In some cases, there may be little sign in the appearance of babies and children with a 15q25 deletion of the underlying disorder. Doctors may notice what are known as "soft signs" such as delayed speech and language skills [3].
Other possible symptoms include:
- Cleft palate
- Cleft upper lip
- Downslanted palpebral fissures
- Myopathic facies
- Short neck
- Tented upper lip vermilion
- Thin vermilion border
- Webbed neck [4]
It's worth noting that the severity and type of symptoms can vary widely among individuals with chromosome 15q25 deletion syndrome. Some people may experience only mild symptoms, while others may have more severe developmental delays or intellectual disabilities.
References:
[1] Chromosome 15q25.2 Microdeletion ... of chromosome 15 at location q25.2 · The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. [2] Background Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. [3] There may be little sign in the appearance of babies and children with a 15q25 deletion of the underlying disorder. Doctors may notice what are known as ... [4] Chromosome 15 spans approximately 102 million DNA building blocks (nucleotides) and represents more than 3 percent of the total DNA in cells. Learn about health implications of genetic changes.
Additional Symptoms
- Thin vermilion border
- Neurodevelopmental delay
- Cleft palate
- Inguinal hernia
- Short neck
- Delayed speech and language skills
- Downslanted palpebral fissures
- Chest deformities
- Mild to moderate intellectual disability and developmental delay
- Cleft upper lip
- Myopathic facies
- Tented upper lip vermilion
- Webbed neck
- anemia
Diagnostic Tests
Diagnostic Tests for Chromosome 15q25 Deletion Syndrome
Chromosome 15q25 deletion syndrome can be diagnosed through various genetic tests, which are essential for confirming the presence of this rare genetic condition. Here are some diagnostic tests used to detect chromosome 15q25 deletion syndrome:
- Array Test: This test is highly sensitive and can detect very small deletions, even when the diagnosis is not suspected [1]. It will also identify a more precise position on the chromosome for the deletion.
- Genetic Tests: Various genetic tests are available in the US and labs around the world to diagnose chromosome 15q25 deletion syndrome. These tests involve analyzing DNA samples from patients to detect deletions or other abnormalities in the chromosome [2].
- Array-CGH Testing: This testing method has been used to identify chromosome 15q25 deletions in over 12,000 patients referred for various congenital abnormalities [3].
Sample Requirements
For genetic testing, a sample of whole blood (5 mL) or DNA is required. This can be obtained from the patient themselves or from a family member.
Turnaround Time and Associated Therapeutic Areas
The turnaround time for these tests varies depending on the laboratory and the specific test used. Chromosome 15q25 deletion syndrome has been associated with various therapeutic areas, including:
- Abnormality of the cardiovascular system (HP:0001626)
- Abnormality of the integument (HP:0001574)
References
[1] Context result 2 [2] Context result 5 [3] Context result 6
Additional Diagnostic Tests
- Genetic Tests
- Array Test
- Array-CGH Testing
Treatment
Treatment Options for Chromosome 15q25 Deletion Syndrome
Chromosome 15q25 deletion syndrome, a rare genetic condition, requires a comprehensive treatment approach to manage its associated symptoms and complications. While there is no cure for this condition, various medical interventions can help alleviate its effects.
- Early Cardiac Screening: Studies emphasize the importance of early cardiac screening in patients with chromosome 15q25 deletion syndrome to prevent sudden cardiac death and initiate timely treatment (6).
- Genetic Counseling: Genetic counseling plays a crucial role in understanding the condition, its inheritance pattern, and the risk of passing it on to offspring. This guidance helps families make informed decisions about reproductive planning.
- Multidisciplinary Care: A multidisciplinary team of healthcare professionals, including geneticists, cardiologists, neurologists, and psychologists, can provide comprehensive care for individuals with chromosome 15q25 deletion syndrome.
- Medications: While there are no specific medications approved for the treatment of chromosome 15q25 deletion syndrome, various drugs may be prescribed to manage associated symptoms such as seizures, anxiety, or sleep disturbances. However, these medications should only be used under the guidance of a healthcare professional (14).
- Lifestyle Modifications: Encouraging healthy lifestyle habits, such as regular exercise, balanced diet, and stress management techniques, can help individuals with chromosome 15q25 deletion syndrome manage their symptoms and improve overall well-being.
References:
- The main features of 15q25 deletion syndrome, involving a 660 kb deletion within a hotspot in chromosome 15q25.2 to 15q25.3, often occur in this way.
- A chromosome 15q25 deletion is a rare genetic condition in which there is a missing (deleted) copy of part of the genetic material that makes up one of the chromosomes.
- Integrated disease information for Chromosome 15q25 Deletion Syndrome including associated genes, mutations, phenotypes, pathways, drugs, and more.
- A number sign (#) is used with this entry because the phenotype is a contiguous gene syndrome caused by deletion on chromosome 15q25.2-q25.3.
- Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (AS
Recommended Medications
- Medications
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Differential Diagnosis
Chromosome 15q25 Deletion Syndrome Differential Diagnosis
The differential diagnosis for chromosome 15q25 deletion syndrome involves considering various conditions that present with similar symptoms, such as growth delays, mental retardation, and inguinal hernia. Some of the conditions to consider in the differential diagnosis are:
- Maternal Duplication Syndrome: This condition is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and other features that may overlap with chromosome 15q25 deletion syndrome [6].
- Deafness-Infertility Syndrome: Caused by a deletion of genetic material on the q arm of chromosome 15, this condition presents with deafness and infertility, which may be similar to some symptoms of chromosome 15q25 deletion syndrome [8].
- Chromosomal 15q Structural Abnormalities: Distal duplication or ring 15 can alter IGF1R expression and function, leading to growth delays and other features that may be similar to chromosome 15q25 deletion syndrome [9].
Key Features to Consider
When considering the differential diagnosis for chromosome 15q25 deletion syndrome, it is essential to look for key features such as:
- Growth Delays: Prenatal and/or postnatal growth retardation are characteristic of chromosome 15q25 deletion syndrome [5].
- Mental Retardation: Intellectual disability is a common feature of this condition [3][4].
- Inguinal Hernia: This symptom may be present in individuals with chromosome 15q25 deletion syndrome, particularly those with proximal microdeletions on chromosome 15q25.2 [3].
References
[3] by Z Chen · 2020 · Cited by 5 — Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. [4] by Z Chen · 2020 · Cited by 5 — Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia... [5] Apr 10, 2009 — The disorder is characterized by growth delays before and/or after birth (prenatal and/or postnatal growth retardation); mental retardation; and... [6] by L Lusk · 2021 · Cited by 27 — Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), ... [8] Apr 26, 2024 — Deafness-infertility syndrome is caused by a deletion of genetic material on the q arm of chromosome 15. The symptoms of deafness and infertility may be similar to some features of chromosome 15q25 deletion syndrome. [9] by Z Chen · 2020 · Cited by 5 — Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia...
Additional Differential Diagnoses
- Maternal Duplication Syndrome
- Chromosomal 15q Structural Abnormalities
- N syndrome
Additional Information
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- A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.
- IDO_0000664
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- relatedICD
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