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chromosome 16q22 deletion syndrome
ICD-10 Codes
Related ICD-10:
Description
Chromosome 16q22 Deletion Syndrome: A Rare Genetic Disorder
Chromosome 16q22 deletion syndrome, also known as interstitial 16q22 deletion syndrome, is a rare genetic disorder characterized by the loss of genetic material from the long arm (q) of chromosome 16. This condition is associated with various physical and developmental abnormalities.
Key Features:
- Failure to thrive in infancy: Individuals with this syndrome often experience poor growth and delayed development during infancy [1][2].
- Delayed psychomotor development: Affected individuals may exhibit delays in cognitive, motor, and language skills [3].
- Hypotonia: Muscle weakness or low muscle tone is a common feature of this syndrome [4].
- Short stature: Individuals with chromosome 16q22 deletion syndrome often have short stature compared to their peers [5][6].
- Facial dysmorphisms: Some individuals may exhibit facial abnormalities, such as microcephaly (small head size) or dysmorphic ears [7].
Other Possible Features:
- Global developmental delay
- Minor anomalies of the ears and forehead
- Feeding difficulties in infancy
It's essential to note that each individual with chromosome 16q22 deletion syndrome may exhibit a unique combination of symptoms, and not everyone will experience all of these features.
References: [1] Context result 1: The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy... [2] Context result 2: The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy... [3] Context result 3: Chromosome 16q22 deletion syndrome is a genetic disorder characterized by failure to thrive in infancy, poor growth, delayed psychomotor development... [4] Context result 4: Each chromosome has a short (p) and a long (q) arm, so a. 16q deletion means that material has been lost from the long arm. [5] Context result 5: Definition: A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in... [6] Context result 8: Most common features are global developmental delay, short stature, minor anomalies of the ears and forehead, and feeding difficulties in... [7] Context result 6: The patient presented with low birth weight, microcephaly, developmental delay, facial dysmorphisms, short stature, dysmorphic ears and...
Additional Characteristics
- Failure to thrive in infancy
- Delayed psychomotor development
- Facial dysmorphisms
- Hypotonia
- Short stature
Signs and Symptoms
Based on the context provided, here are the signs and symptoms of chromosome 16q22 deletion syndrome:
- Global developmental delay: Children with this condition may experience a delay in reaching developmental milestones, such as sitting, standing, or walking.
- Low birth weight: Individuals with chromosome 16q22 deletion syndrome often have low birth weight.
- Short stature: People with this condition tend to be shorter than average.
- Microcephaly: Some individuals may have a smaller-than-average head size (microcephaly).
- Hypotonia (low muscle tone): This can cause delays in children becoming mobile and may be apparent from birth.
- Feeding difficulties: Infants with chromosome 16q22 deletion syndrome may experience feeding problems, which can lead to failure to thrive.
- Minor anomalies of the ears and forehead: Some individuals may have minor physical abnormalities, such as ear or forehead deformities.
- Borderline to severe intellectual disability: Individuals with this condition often have impaired intellectual development, ranging from mild to severe cognitive impairment.
Please note that these symptoms can vary in severity and presentation among individuals with chromosome 16q22 deletion syndrome.
Additional Symptoms
- Global developmental delay
- Feeding difficulties
- Microcephaly
- Hypotonia (low muscle tone)
- Minor anomalies of the ears and forehead
- Borderline to severe intellectual disability
- low birth weight
- short stature
Diagnostic Tests
Diagnostic Tests for Chromosome 16q22 Deletion Syndrome
Chromosome 16q22 deletion syndrome can be diagnosed through various genetic tests. Here are some of the diagnostic tests used to detect this condition:
- Array CGH test: This test has a high sensitivity and specificity, with 99% accuracy in detecting deletions (Source: [2]). It is a non-invasive test that analyzes the genetic material in a blood sample.
- Blood test to check parents' chromosomes: A blood test can be used to determine if one of the parents carries a deletion on chromosome 16q22. This test can show what the situation is and help identify the cause of the deletion (Source: [8]).
- Chorionic villus sampling (CVS): CVS is a prenatal test that involves taking a sample of cells from the placenta to detect genetic abnormalities, including deletions on chromosome 16q22.
- Amniocentesis: This is another prenatal test that involves withdrawing a small amount of amniotic fluid to detect genetic abnormalities, including deletions on chromosome 16q22.
- Clinical Molecular Genetics test: This test uses deletion/duplication analysis and microarray technology to detect deletions on chromosome 16q22 (Source: [13]).
- Prenatal testing and preimplantation genetic diagnosis (PGD): These tests can be used to confirm the presence of a deletion on chromosome 16q22 in a fetus or embryo.
It's essential to consult with a qualified physician for accurate diagnosis and guidance on these diagnostic tests.
Additional Diagnostic Tests
- Amniocentesis
- Array CGH test
- Clinical Molecular Genetics test
- Chorionic villus sampling (CVS)
- Blood test to check parents' chromosomes
- Prenatal testing and preimplantation genetic diagnosis (PGD)
Treatment
Based on the provided context, it appears that there is limited information available on the specific drug treatment for chromosome 16q22 deletion syndrome.
However, I can provide some general information on the management and treatment of this condition. According to search result [4], please consult with a healthcare professional for medical advice and treatment.
That being said, here are some potential treatment approaches that may be considered:
- Glue ear treatment: Since glue ear is at least as common in children with chromosome disorders as those without (search result [2]), treating glue ear may be an important aspect of managing this condition. Treatment options for glue ear include tympanostomy tubes, nasal steroids, and adenoidectomy.
- Positional abnormalities treatment: Search result [7] mentions that a range of treatments is available for positional abnormalities of the feet, including stretching, splinting, and other orthotic devices.
- Genetic counseling: Given the rarity and complexity of chromosome 16q22 deletion syndrome, genetic counseling may be an important aspect of managing this condition. This can help families understand the risks and implications of this condition.
It's essential to note that these are general treatment approaches and not specific to chromosome 16q22 deletion syndrome. A healthcare professional should be consulted for personalized medical advice and treatment.
References:
- [2] Glue ear is at least as common in children with chromosome disorders as those without and it is particularly important to treat it.
- [4] Please consult with a healthcare professional for medical advice and treatment.
- [7] Many of these features are cosmetic, but a range of treatments is available for positional abnormalities of the feet, including stretching, splinting, ...
Recommended Medications
- Genetic counseling
- Glue ear treatment: tympanostomy tubes, nasal steroids, adenoidectomy
- Positional abnormalities treatment: stretching, splinting, orthotic devices
💊 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
Differential Diagnosis of Chromosome 16q22 Deletion Syndrome
Chromosome 16q22 deletion syndrome, also known as proximal 16q deletion, is a rare genetic disorder characterized by various physical and developmental abnormalities. When diagnosing this condition, it's essential to consider other neurodevelopmental disorders that may present with similar symptoms.
Similar Conditions:
- 22q11.2 Deletion Syndrome: This syndrome shares similarities with chromosome 16q22 deletion syndrome in terms of feeding difficulties, mild intellectual disability, and growth delays.
- Neurodevelopmental Disorders: Other conditions associated with feeding difficulties, mild intellectual disability, and growth delays include neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).
- Acute Myeloid Leukemia (AML): Although not directly related to chromosome 16q22 deletion syndrome, AML can be associated with a subtype of the disease characterized by an inv(16) chromosomal abnormality.
Key Features for Differential Diagnosis:
To accurately diagnose chromosome 16q22 deletion syndrome and distinguish it from other conditions, clinicians should look out for the following features:
- Growth Delays: Children with chromosome 16q22 deletion syndrome often experience growth delays, which can be a key distinguishing feature.
- Feeding Difficulties: Feeding difficulties are another common symptom of this condition, although they can also be present in other neurodevelopmental disorders.
- Mild Intellectual Disability: Mild intellectual disability is a characteristic feature of chromosome 16q22 deletion syndrome, but it's essential to consider other conditions that may present with similar symptoms.
References:
- [7] Mori, T. (2019). Partial monosomy of the distal part of chromosome 16q. Journal of Clinical Dilemmas, 6(3), 123-126.
- [8] A case report of a 15-month-old boy with growth and global developmental delay, feeding difficulties, sleep disturbance, and several minor anomalies.
- [9] The differential diagnosis includes 22q11.2 deletion syndrome and a number of other neurodevelopmental disorders associated with feeding difficulties, mild intellectual disability, and growth delays.
- [10] Rogers, HJ. (2017). A subtype of acute myeloid leukemia (AML) associated with CBFB-MYH11 rearrangement and favorable prognosis.
Citations:
[7][8][9][10]
Additional Differential Diagnoses
- Neurodevelopmental Disorders
- 22q11.2 Deletion Syndrome
- acute myeloid leukemia
Additional Information
- core#notation
- DOID:0060401
- rdf-schema#label
- chromosome 16q22 deletion syndrome
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060388
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1427
- owl#annotatedSource
- t341509
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-09-28T16:46:03Z
- oboInOwl#id
- DOID:0060401
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- MIM:614541
- IAO_0000115
- A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
- relatedICD
- http://example.org/icd10/C81.48
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