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chromosomal deletion syndrome
ICD-10 Codes
Related ICD-10:
Description
Chromosomal deletion syndromes are a group of genetic disorders caused by the loss of parts of chromosomes. These deletions can occur in any chromosome, but they tend to cause birth defects, intellectual disability, and problems with physical development [1].
The clinical features of chromosomal deletion syndromes vary depending on the location, size, and inheritance pattern of the deletion. Some common symptoms include learning disabilities/impairments, palate anomalies (such as velopharangeal insufficiency), characteristic facial appearance, delayed growth, delayed development, and delayed speech [2-5].
For example, 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. It is associated with congenital heart disease, cleft palate, and other physical abnormalities [6]. Similarly, 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16, which can lead to intellectual disability, delayed speech, and other developmental delays [7].
Chromosomal deletions occur when there is homologous but unequal recombination between gene sequences during mitosis [8]. This can result in the loss of important genes and disrupt normal cellular function.
In children with chromosomal deletion syndromes, a tiny piece of chromosome 22 (in the case of 22q11.2DS) or another chromosome is missing, which can cause many health problems [9].
References: [1] Context #1 [2] Context #2 [3] Context #5 [4] Context #6 [5] Context #7 [6] Context #6 [7] Context #7 [8] Context #8 [9] Context #9
Additional Characteristics
- Chromosomal deletion syndromes
- 22q11.2 deletion syndrome
- 16p11.2 deletion syndrome
Signs and Symptoms
Chromosomal deletion syndromes, also known as 22q11.2 deletion syndrome, are a group of rare genetic disorders that can cause various health problems.
Common Signs and Symptoms:
- Heart problems [1]
- Low muscular tone
- Speech difficulties
- Middle ear infections or hearing loss
- Vision problems
- Cleft palate [9]
Other Possible Symptoms:
- Developmental delays, including fine motor skills, speech, and language [5]
- Seizures [2][8]
- Immune system symptoms [5]
- Kidney abnormalities [2][9]
- Complications from low levels of calcium in the blood (which can result in seizures) [2]
Facial Features:
- Distinctive facial features, mild to moderate intellectual disability [6]
- Unique facial characteristics [9]
Other Health Issues:
- Recurrent infections
- Feeding problems
- Low levels of immunity [1]
- Complications from low levels of calcium [2]
It's essential to note that each individual with chromosomal deletion syndrome may experience a unique set of symptoms, and not everyone will exhibit all of these signs. If you or someone you know is suspected of having this condition, consult a medical professional for proper diagnosis and care.
References: [1] - Context 1 [2] - Context 2 [3] - Not used in the answer [5] - Context 5 [6] - Context 6 [8] - Context 8 [9] - Context 9
Additional Symptoms
- Cleft palate
- Seizures
- Speech difficulties
- Feeding problems
- Vision problems
- Recurrent infections
- Heart problems
- Low muscular tone
- Middle ear infections or hearing loss
- Developmental delays, including fine motor skills, speech, and language
- Immune system symptoms
- Kidney abnormalities
- Low levels of immunity
- Complications from low levels of calcium
Diagnostic Tests
Diagnostic Tests for Chromosomal Deletion Syndrome
Chromosomal deletion syndromes, such as DiGeorge syndrome (22q11.2 deletion syndrome), can be diagnosed through various laboratory tests.
- Lab Test: A primary lab test used to diagnose DiGeorge syndrome is a chromosomal microarray that detects the deletion in chromosome 22 [1].
- Karyotyping: Karyotyping, a cytogenetic technique, can confirm the diagnosis if the deletion is relatively large or suspected based on clinical appearance [2].
- Chromosomal Microarray: Array comparative genomic hybridization (aCGH) is considered the most appropriate test for detecting the 22q11.2 deletion, offering added sensitivity and specificity [5].
- FISH Testing: Fluorescence in situ hybridization (FISH) testing may be required to confirm the diagnosis in cases where routine G-banded cytogenetic testing is inconclusive [7].
Additional Diagnostic Tests
In addition to these tests, a physical exam and certain medical tests may also be performed to assess the child's overall health. These may include:
- Blood Tests: Blood tests can help identify immune system problems associated with chromosomal deletion syndromes [4].
- X-ray: An X-ray may be taken to evaluate any potential skeletal or other structural abnormalities.
Prenatal Testing
Expanded noninvasive prenatal test panels are now available, enabling screening for microdeletion syndromes such as the 22q11.2 deletion syndrome before birth [8].
References: [1] - A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. [2] - Postnatal diagnosis is suspected by clinical appearance and is confirmed by karyotyping, if the deletion is relatively large, or by other cytogenetic techniques ... [4] - They will do a physical exam. Your child may need certain tests. These may include: Blood tests. These are to look for immune system problems. [5] - Oct 14, 2021 — Array comparative genomic hybridization (aCGH) is the preferable and most appropriate test for detecting the 22q11.2 deletion. [7] - While the deletion is visible by routine G-banded cytogenetic testing in some, about two-thirds of cases require FISH testing to confirm the diagnosis. [8] - by Y Yaron · 2015 · Cited by 68 — Expanded noninvasive prenatal test panels have recently become available, which enable screening for microdeletion syndromes such as the 22q11.
Additional Diagnostic Tests
- Blood Tests
- X-ray
- Karyotyping
- Chromosomal microarray
- Array comparative genomic hybridization (aCGH)
- Fluorescence in situ hybridization (FISH) testing
Treatment
Treatment Options for Chromosomal Deletion Syndromes
Chromosomal deletion syndromes, such as DiGeorge syndrome (22q11.2 deletion syndrome), can be treated with various medications to manage related health problems.
- Antibiotic medications: To treat infections, which are a common symptom of chromosomal deletion syndromes [8].
- Melatonin and methylphenidate: Off-label use of these medications may be considered in young children with 1p36 deletion syndrome to treat insomnia and attention deficit/hyperactivity disorder, respectively [9].
Other Treatment Options
While there is no cure for chromosomal deletion syndromes, many related health problems can be treated. Treatment will depend on the specific symptoms and needs of each individual.
- Heart problem correction: Treatments can correct critical heart problems associated with DiGeorge syndrome [1].
- Cleft palate repair: Surgical treatment may be necessary to repair cleft palates in individuals with chromosomal deletion syndromes [1].
Early Care and Management
Seeking early care and management is crucial for individuals with chromosomal deletion syndromes. This can help prevent or manage related health problems and improve overall quality of life.
- Regular check-ups: Regular medical check-ups can help identify potential health issues early on, allowing for prompt treatment [4].
- Multidisciplinary care: A team of healthcare professionals may be necessary to provide comprehensive care for individuals with chromosomal deletion syndromes [5].
References:
[1] Jan 13, 2024 - Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments usually can correct critical problems, such as a heart problem or cleft palate.
[4] There is no cure for 22q11.2DS. But many of its related health problems can be treated. You can help your child by seeking early care.
[5] Overview of Chromosomal Deletion Syndromes - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.
[8] 22q11.2 deletion syndrome) varies for each person and depends on what symptoms affect your body. Treatment could include: Antibiotic medications to treat infections.
[9] by W Briegel · 2021 — Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome.
Recommended Medications
- Antibiotic medications
- Melatonin and methylphenidate
- Heart problem correction
- Cleft palate repair
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for chromosomal deletion syndromes involves considering various conditions that may present with similar symptoms and characteristics.
According to the search results, some of the differentials for 22q11.2DS (DiGeorge syndrome) include:
- Smith-Lemli-Opitz syndrome [3]
- CHARGE syndrome [3]
- Alagille syndrome [3]
- VATER syndrome [3]
- Goldenhar syndrome [3]
Additionally, the differential diagnosis for chromosome 4q deletion includes:
- Schilbach-Rott syndrome [6]
- auriculo-condylar (question mark ear) syndrome [6]
- Frydman syndrome [6]
- Kabuki syndrome [6]
Other congenital syndromes that may be considered in the differential diagnosis include:
- Zellweger syndrome [9]
- CHARGE syndrome [9]
- Opitz G/BBB syndrome [9]
- Severe combined immunodeficiency (SCID) [9]
It's worth noting that each of these conditions has its own unique characteristics and symptoms, and a comprehensive evaluation by a medical professional is necessary to determine the correct diagnosis.
References:
[3] - Differential diagnosis includes Smith-Lemli-Opitz syndrome, CHARGE syndrome, Alagille syndrome, VATER syndrome, Goldenhar syndrome ... [6] - Differential diagnosis includes Schilbach-Rott syndrome, auriculo-condylar (question mark ear) syndrome, Frydman syndrome, Kabuki syndrome (see these terms). [9] - DIFFERENTIAL DIAGNOSIS · Other congenital syndromes · - Zellweger syndrome · - CHARGE syndrome · - Opitz G/BBB syndrome · - Severe combined ...
Additional Differential Diagnoses
- VATER syndrome
- auriculo-condylar (question mark ear) syndrome
- N syndrome
- CHARGE syndrome
- Kabuki syndrome
- Opitz GBBB syndrome
- severe combined immunodeficiency
- Smith-Lemli-Opitz syndrome
- Goldenhar syndrome
- Zellweger syndrome
- Alagille syndrome
Additional Information
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- disease_ontology
- oboInOwl#creation_date
- 2015-09-28T15:48:41Z
- oboInOwl#id
- DOID:0060388
- oboInOwl#created_by
- elvira
- IAO_0000115
- A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
- relatedICD
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- core#notation
- DOID:0060388
- rdf-schema#label
- chromosomal deletion syndrome
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- http://purl.obolibrary.org/obo/DOID_0070515
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- owl#equivalentClass
- t341102
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- https://w3id.org/def/predibionto#has_symptom_1414
- owl#annotatedSource
- t341284
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