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chromosome 17p13.1 deletion syndrome
ICD-10 Codes
Related ICD-10:
Description
Chromosome 17p13.1 Deletion Syndrome: A Rare Genetic Disorder
Chromosome 17p13.1 deletion syndrome is a rare genetic disorder characterized by mild global developmental delay/intellectual disability, poor to absent speech, and distinct physical features [5][6]. This condition is caused by the deletion of a small part of the genetic material on chromosome 17p13.1.
Clinical Features
The clinical features of chromosome 17p13.1 deletion syndrome include:
- Mild global developmental delay/intellectual disability
- Poor to absent speech
- Dysmorphic features, such as:
- Long midface
- Retrognathia with overbite
- Protruding ears
- Microcephaly (small head size)
- Failure to thrive
- Wide-based gait and a body posture with knee and elbow flexion and hands held in a midline [13]
Prevalence and Prevention
Chromosome 17p13.1 deletion syndrome is a rare condition, and its prevalence is not well established. Unfortunately, this genetic disorder may not be preventable since many cases are sporadic occurrences, meaning there is no family history of the condition [11].
References
- [5] Chromosome 17p13.1 deletion syndrome is a genetic disorder characterized by mild global developmental delay/intellectual disability, poor to absent speech, and distinct physical features.
- [6] The core clinical phenotype of chromosome 17p13.1 deletion syndrome includes intellectual disability, poor to absent speech, and dysmorphic features.
- [11] Chromosome 17p13.1 and 17p13.2 Microdeletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the
Additional Characteristics
- Microcephaly (small head size)
- Failure to thrive
- Poor to absent speech
- intellectual disability
- Dysmorphic features (long midface, retrognathia with overbite, protruding ears)
- Wide-based gait and body posture with knee and elbow flexion and hands held in a midline
Signs and Symptoms
Based on the provided context, here are the signs and symptoms associated with Chromosome 17p13.1 Deletion Syndrome:
Physical Characteristics:
- Inverted nipples, bilaterally
- Feeding difficulties
- Growth issues (growth retardation)
Intellectual Disability and Developmental Delays:
- Intellectual disability is a core feature of this syndrome
- Poor to absent speech
- Learning difficulties
Other Symptoms:
- Gastrointestinal issues (not specified in the context)
- Various other symptoms such as lissencephaly ('smooth brain') and unusual facial features are mentioned, but these are more commonly associated with 17q12 deletion syndrome.
Please note that this is not an exhaustive list of symptoms, and individual cases may vary. If you have any specific questions or concerns about Chromosome 17p13.1 Deletion Syndrome, feel free to ask!
Additional Symptoms
- Feeding difficulties
- Intellectual disability
- Learning difficulties
- Inverted nipples
- Growth issues
- Poor to absent speech
Diagnostic Tests
Available Diagnostic Tests for Chromosome 17p13.1 Deletion Syndrome
Chromosome 17p13.1 deletion syndrome is a rare genetic disorder that can be diagnosed through various clinical tests. The following diagnostic tests are available to detect this condition:
- Cytogenetics Tests: These tests examine the chromosomes in your cells to identify any abnormalities, including deletions or duplications of genetic material on chromosome 17p13.1 [2].
- FISH (Fluorescence In Situ Hybridization) Test: This test uses a probe to detect the presence of deletion or duplication involving the 17p13.1 region on chromosome 17 [4].
- Blood Test: A blood test can be performed to check both parents' chromosomes and determine why the 17p13 microdeletion occurred in their child [8].
These diagnostic tests are essential for identifying chromosome 17p13.1 deletion syndrome, which is characterized by mild global developmental delay/intellectual disability, poor to absent speech, and other physical abnormalities [5]. Early diagnosis through these tests can help provide appropriate medical care and support for individuals with this condition.
References:
[2] - Cytogenetics Tests are available for chromosome 17p13.1 deletion syndrome. [4] - FISH test is used to detect the presence of deletion or duplication involving the 17p13.1 region on chromosome 17. [5] - Chromosome 17p13.1 deletion syndrome is characterized by mild global developmental delay/intellectual disability, poor to absent speech, and other physical abnormalities. [8] - A blood test can be performed to check both parents' chromosomes and determine why the 17p13 microdeletion occurred in their child.
Note: The above information is based on the search results provided.
Additional Diagnostic Tests
- Blood Test
- Cytogenetics Tests
- FISH (Fluorescence In Situ Hybridization) Test
Treatment
Treatment Options for Chromosome 17p13.1 Deletion Syndrome
Chromosome 17p13.1 deletion syndrome is a rare genetic disorder characterized by mild global developmental delay/intellectual disability, among other symptoms. While there is no cure for this condition, various treatment options can help manage its effects.
- Chemotherapy: In some cases, chemotherapy may be used to treat associated conditions such as chronic lymphocytic leukemia (CLL) that can occur with chromosome 17p13.1 deletion syndrome [3]. For example, a study found that cladribine combined with cyclophosphamide was effective in frontline therapy for CLL patients with 17p13.1/TP53 deletion [7].
- Chemoimmunotherapy: Another treatment approach is chemoimmunotherapy, which combines chemotherapy and immunotherapy to target cancer cells. A study on relapsed/refractory and progressive 17p13-deleted CLL found that pentostatin, alemtuzumab, and rituximab were effective in treating this condition [3].
- Supportive Care: Supportive care is essential for individuals with chromosome 17p13.1 deletion syndrome to manage their symptoms and improve quality of life. This may include physical therapy, occupational therapy, speech therapy, and other interventions tailored to the individual's needs.
- Genetic Counseling: Genetic counseling can help families understand the risks associated with this condition and make informed decisions about reproductive planning.
It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can assess the individual's specific needs and develop a comprehensive care plan [6].
References:
[3] Chemoimmunotherapy for relapsed/refractory and progressive 17p13-deleted chronic lymphocytic leukemia (CLL) combining pentostatin, alemtuzumab, and rituximab.
[7] Activity of cladribine combined with cyclophosphamide in frontline therapy for chronic lymphocytic leukemia with 17p13.1/TP53 deletion.
Note: The above information is based on the search results provided and may not be comprehensive or up-to-date. It is essential to consult with a healthcare professional for accurate and personalized advice.
Recommended Medications
- Chemotherapy
- Supportive Care
- Chemoimmunotherapy
💊 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 17p13.1 Deletion Syndrome
Chromosome 17p13.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability, poor to absent speech, dysmorphic features, and microcephaly [4][14]. When considering the differential diagnosis for this condition, several other chromosomal abnormalities and syndromes should be taken into account.
- Miller-Dieker Syndrome: This is a severe form of lissencephaly, characterized by a deletion in the 17p13.3 region of chromosome 17 [9]. Patients with Miller-Dieker syndrome often present with more severe intellectual disability and seizures compared to those with isolated lissencephaly sequence.
- Chromosome 17q12 Deletion Syndrome: This condition results from the deletion of a small piece of chromosome 17 in each cell, leading to signs and symptoms such as intellectual disability, delayed speech, and distinctive facial features [8].
- Chromosome 17p13.3 Duplication Syndrome: This is a rare genetic disorder characterized by an extra copy of the 17p13.3 region of chromosome 17, resulting in intellectual disability, delayed speech, and other developmental delays [14].
Key Considerations for Differential Diagnosis
When considering the differential diagnosis for chromosome 17p13.1 deletion syndrome, it's essential to take into account the following factors:
- Clinical Presentation: Patients with chromosome 17p13.1 deletion syndrome often present with intellectual disability, poor to absent speech, and dysmorphic features [4][14].
- Genetic Testing: Genetic testing is crucial for confirming the diagnosis of chromosome 17p13.1 deletion syndrome and ruling out other chromosomal abnormalities [10].
- Specialized Tests: Specialized tests such as microarray analysis or FISH (Fluorescence In Situ Hybridization) may be necessary to confirm the diagnosis and identify any underlying genetic mutations [11].
References
[4] CMB Carvalho · 2014 · Cited by 51 — Dosage changes of a segment at 17p13.1 lead to intellectual disability, poor to absent speech, and dysmorphic features.
[8] Clinical resource with information about Chromosome 17q12 Deletion Syndrome and its clinical features.
[9] In patients with syndromic mental retardation, Krepischi-Santos et al. (2009) identified microdeletions of chromosome 17p13.3-p13.1, ranging in size from 287 kb to 4.4 Mb, each with unique breakpoints.
[10] Often, specialized tests are necessary to confirm the disorder.
[11] An overlapping segment of approximately 180 kb of chromosome 17p13.1 encompassed 18 genes, including TP53 and several other tumor suppressor genes.
[14] The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variable clinical features, most prominently microcephaly.
Additional Differential Diagnoses
- Miller-Dieker Syndrome
- chromosome 17q12 deletion syndrome
- chromosome 17p13.3 duplication syndrome
Additional Information
- relatedICD
- http://example.org/icd10/Q71.8
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1428
- owl#annotatedSource
- t341394
- core#notation
- DOID:0060402
- rdf-schema#label
- chromosome 17p13.1 deletion syndrome
- rdf-schema#subClassOf
- t341050
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-09-28T16:49:53Z
- oboInOwl#id
- DOID:0060402
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- MIM:613776
- IAO_0000115
- A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
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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.