chromosome 13q14 deletion syndrome

Chromosome 13q14 Deletion Syndrome: A Rare Genetic Disorder

The chromosome 13q14 deletion syndrome, also known as monosomy 13q14, is a rare chromosomal anomaly syndrome that results from a partial deletion of the long arm of chromosome 13. This genetic disorder is characterized by various physical and developmental abnormalities.

Characteristics of Chromosome 13q14 Deletion Syndrome

• Developmental Delay: Children with this condition often experience developmental delay, which can manifest as delayed speech, motor skills, or cognitive development [1][5].
• Retinoblastoma: This syndrome is associated with an increased risk of retinoblastoma, a type of eye cancer that affects the retina [2][3].
• Mental Impairment: Variable degrees of mental impairment are also characteristic of this condition, which can range from mild to severe cognitive disabilities [2][4].
• Distinctive Facial Features: Individuals with chromosome 13q14 deletion syndrome often exhibit distinctive facial features, although these may vary in severity and expression [3].

Other Aspects

• The deletion of the long arm of chromosome 13 is a significant genetic alteration that can have far-reaching consequences for affected individuals.
• Research has shown that this condition contributes to the pathogenesis of certain cancers, such as chronic lymphocytic leukemia (CLL) [9].
• Early diagnosis and intervention are crucial in managing the symptoms and complications associated with this rare genetic disorder.

References

[1] Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay. [2] The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features. [3] Chromosome 13q14 deletion syndrome is characterized by retinoblastoma, variable degrees of mental impairment, and distinctive facial features. [4] 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. [5] Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay. [6] Children with a chromosome disorder where. 13q14.2 is missing only have one copy of the gene. If that copy is damaged, as can happen when genes are copying ... [7] Aug 9, 2016 — Chromosome 13, Partial Monosomy 13q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 13 is missing (deleted or monosomic). [8] The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial ... [9] by K Khalid · 2021 · Cited by 15 — This significant 13q14 deletion contributes to CLL's pathogenesis and paves the way for CLL treatment, hence affecting the prognosis of the affected patients.

Characteristics of Chromosome 13q14 Deletion Syndrome

Chromosome 13q14 deletion syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.

• Retinoblastoma: This is a type of eye cancer that affects the retina, and it is one of the hallmark features of this syndrome [1][3][6].
• Variable degrees of mental impairment: Individuals with chromosome 13q14 deletion syndrome may experience varying levels of intellectual disability or developmental delays [2][8].
• Characteristic facial features: People with this syndrome often have distinctive facial features, including a short nose with a broad nasal bridge and bulbous tip, prominent eyebrows, thick ear lobes, and a high and broad forehead [5].

Additional Features

Other symptoms that may be present in individuals with chromosome 13q14 deletion syndrome include:

• Malformations of the head: These can range from mild to severe and may involve defects in the formation of the scalp or other cranial structures [7].
• High birth weight: Some individuals with this syndrome may have higher-than-average birth weights [4].
• Macrocephaly: This refers to an abnormally large head size, which is another feature that may be present in some cases.
• Pinealoma: A rare type of brain tumor that can occur in individuals with chromosome 13q14 deletion syndrome.
• Hepatomegaly: Enlargement of the liver, which can be a symptom of this syndrome.
• Inguinal hernia and cryptorchidism: These are two other features that have been reported in some cases.

It's essential to note that not everyone with chromosome 13q14 deletion syndrome will exhibit all of these symptoms, and the severity of each feature can vary widely from person to person.

Diagnostic Tests for Chromosome 13q14 Deletion Syndrome

Chromosome 13q14 deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth [4]. The following diagnostic tests are used to confirm the presence of this rare chromosomal anomaly:

• Chromosome Testing: Parents may undergo chromosome testing to determine if the deletion was inherited, with some cases linked to a balanced translocation in one parent [3].
• 180K CGH+SNP microarray analysis: This test is specifically designed for diagnosing chromosome 13q14 deletion syndrome and other genetic disorders [6].
• Multiplex Ligation-dependent Probe Amplification (MLPA): This test can be used to detect deletions or duplications in the long arm of chromosome 13, including the region affected by this syndrome [9].

These diagnostic tests are typically performed on a blood sample or other tissue and can provide accurate results for diagnosing chromosome 13q14 deletion syndrome.

References

• [3] Parents may undergo chromosome testing to determine if the deletion was inherited, with some cases linked to a balanced translocation in one parent.
• [4] Chromosome 13q14 deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth.
• [6] Chromosome 13q14 deletion syndrome, 613884, Autosomal dominant, Isolated ... 180K CGH+SNP microarray analysis.
• [9] by S Dittner-Moormann · 2020 · Cited by 7 — Testing started with Multiplex Ligation-dependent Probe Amplification (MLPA) on DNA from blood, because syndromic features of the patient ...

Managing Symptoms through Medication

While there is no cure for chromosome 13q14 deletion syndrome, various medications can help manage its symptoms. According to the search results, a neurologist and rehabilitation physician are often involved in treating patients with this condition.

• Medication Management: Treatment plans typically focus on alleviating specific symptoms, such as developmental delays or related complications [4]. Medications may be prescribed to address these issues.
• Combination Therapy: Research suggests that combining certain medications can lead to more effective treatment outcomes. For instance, a study found that pairing ibrutinib with cirmtuzumab showed promise in treating CLL associated with chromosome 13q14 deletion syndrome [9].
• Targeted Therapies: Some studies explore the use of targeted therapies, such as OAC/IVIT regimens, which can be effective in treating certain complications related to chromosome 13q14 deletion syndrome [2].

Important Considerations

It's essential to note that each patient's treatment plan is unique and tailored to their specific needs. A healthcare professional should be consulted for personalized guidance on managing symptoms through medication.

References:

[4] - Although there is no cure for 13q deletion syndrome, symptoms can be managed, usually with the involvement of a neurologist, rehabilitation physician, ...

[9] - by K Khalid · 2021 · Cited by 15 — It was evident from the preclinical studies that a combination of ibrutinib and cirmtuzumab is more effective than treatment with either agent ...

Chromosome 13q14 Deletion Syndrome Differential Diagnosis

The differential diagnosis for chromosome 13q14 deletion syndrome involves identifying other genetic conditions that may present with similar symptoms and characteristics.

• Retinoblastoma: This is a key feature of chromosome 13q14 deletion syndrome, but it can also be caused by mutations in the RB1 gene. Therefore, retinoblastoma should be considered in the differential diagnosis.
• Intellectual disability: Individuals with chromosome 13q14 deletion syndrome may exhibit variable degrees of intellectual disability, which can also be present in other genetic conditions such as Down syndrome or Fragile X syndrome.
• Craniofacial dysmorphism: The characteristic facial features associated with chromosome 13q14 deletion syndrome, including high forehead, prominent philtrum, and anteverted earlobes, may be similar to those found in other genetic conditions such as Prader-Willi syndrome or Angelman syndrome.

Other Conditions to Consider

• Monosomy 13q: This is a rare chromosomal anomaly that can result from a partial deletion of the long arm of chromosome 13. It presents with developmental delay, variable degrees of intellectual disability, retinoblastoma, and craniofacial dysmorphism.
• Partial monosomy 13q: This condition is similar to monosomy 13q but may present with milder symptoms.

Key Points

• Chromosome 13q14 deletion syndrome should be considered in the differential diagnosis of individuals presenting with retinoblastoma, intellectual disability, and craniofacial dysmorphism.
• Other genetic conditions such as retinoblastoma, intellectual disability, and craniofacial dysmorphism should also be considered in the differential diagnosis.

References

[1] Caselli et al. (2007) - Characterized chromosome 13q14 deletion syndrome with retinoblastoma, variable degrees of mental impairment, and characteristic facial features. [2] Khalid (2021) - Highlighted the significance of a large deletion in the 13q14 region contributing to CLL's pathogenesis. [3] Dittner-Moormann (2020) - Emphasized the predisposition to develop retinoblastoma and variable other features in children with interstitial deletions of chromosome 13q14. [4] Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism.