chromosome 10q23 deletion syndrome

Chromosome 10q23 Deletion Syndrome: A Rare Genetic Disorder

Chromosome 10q23 deletion syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities [5]. The condition is caused by a deletion or removal of a small part of chromosome 10, specifically the q23 region [4].

Clinical Features

Individuals with chromosome 10q23 deletion syndrome may exhibit a range of clinical features, including:

• Dysmorphic facies (abnormal facial appearance) [5]
• Developmental delay [5]
• Multiple congenital abnormalities, such as heart defects and skeletal anomalies [5]
• Juvenile polyposis, a rare condition characterized by the growth of polyps in the gastrointestinal tract [8]

Genetic Basis

The deletion of chromosome 10q23 is thought to be caused by a complex set of low-copy repeats (LCRs) in the region, which can give rise to various genomic changes mediated by nonallelic homologous recombination [9].

Prevalence and Prognosis

Chromosome 10q23 deletion syndrome is a rare condition, with only a few reported cases in the medical literature. The prognosis for individuals with this condition varies depending on the severity of their symptoms and the presence of any associated health problems.

References:

[4] Context result 4 [5] Context results 1, 5, 10 [8] Context result 6

Chromosome 10q23 Deletion Syndrome: Signs and Symptoms

Individuals with chromosome 10q23 deletion syndrome may exhibit a range of physical and developmental characteristics. Some common signs and symptoms include:

• Mild facial dysmorphism: A subtle alteration in the shape or structure of the face, which can vary among affected individuals [5].
• Developmental delay: Children with this condition may experience delays in reaching certain milestones, such as sitting, standing, or speaking [3].
• Intellectual disability: Mild to moderate intellectual disability is a common feature associated with chromosome 10q23 deletion syndrome [6].
• Physical characteristics: Some individuals may have distinctive facial features, including sparse hair, epicanthic folds, hypoplastic nasal bone, protruding lower lip, small ears, and high-arched palate [7].
• Growth issues: Affected individuals may experience unusually slow growth before and after birth, as well as abnormally diminished muscle tone (hypotonia) [8].
• Feeding difficulties: Some children with this condition may have trouble feeding or gain weight at a slower rate than their peers [1].

It's essential to note that the severity and specific signs of chromosome 10q23 deletion syndrome can vary significantly among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

[1] - Congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive [1] [3] - Clinical features consisted of mildly dysmorphic facies, frontal telangiectasias, poor scholastic performance and hyperactivity [2] [5] - 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including sparse hair, epicanthic folds, hypoplastic nasal bone, protruding lower lip, small ears, and high-arched palate [5] [6] - Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability [6] [7] - She had mildly dysmorphic features: sparse hair, epicanthic folds, hypoplastic nasal bone, protruding lower lip, small ears, and high-arched palate, with normal intelligence quotient (IQ) [7] [8] - The disorder is characterized by unusually slow growth before and after birth); abnormally diminished muscle tone (hypotonia); mild to severe intellectual disability [8]

Diagnostic Tests for Chromosome 10q23 Deletion Syndrome

Chromosome 10q23 deletion syndrome can be diagnosed through various clinical tests, including:

• Cytogenetics Tests: These tests examine the chromosomes to identify any abnormalities. Fluorescence in situ hybridization (FISH) is a type of cytogenetic test that uses fluorescent DNA probes to detect specific genetic markers on the chromosome [1].
• Molecular Genetics Tests: Deletion/duplication analysis is a molecular genetics test that can detect deletions or duplications of genetic material, including those affecting the 10q23 region [8].

Specific Diagnostic Methods

The following diagnostic methods are specifically used to diagnose chromosome 10q23 deletion syndrome:

• Fluorescence in situ Hybridization (FISH): FISH is a sensitive and specific test for detecting microdeletions, including those affecting the 10q23 region [3].
• Array-CGH: Array-CGH is a molecular genetics test that can detect deletions or duplications of genetic material, including those affecting the 10q23 region [5].

Clinical Presentation

The clinical presentation of chromosome 10q23 deletion syndrome may include:

• Mild facial dysmorphism variably including macrocephaly, broad forehead, and short nose [10].
• Extensive polyposis, early colectomy, and gastrointestinal malignancy [6].
• Genomic changes due to low-copy repeats leading to deletions that include the BMPR1A gene [8].

References

[1] Clinical tests (9 available). Cytogenetics Tests. Fluorescence in situ hybridization (FISH) (1).

[3] Fluorescence in situ Hybridization (FISH)​​ Microdeletion syndromes affect every pediatric and genetics practice.

[5] Newer ways of examining chromosomes such as array-CGH [microarrays] and the FISH technique using fluorescent DNA probes targeted to gene markers within the ...

[6] by S Septer · 2013 · Cited by 26 — Children with this gene mutation are at significant risk for extensive polyposis, early colectomy and gastrointestinal malignancy.

[8] Chromosome 10q22.3-q23.2 deletion syndrome is characterized by genomic changes due to low-copy repeats, leading to deletions that include the BMPR1A gene.

[10] 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad ...

Treatment Options for Chromosome 10q23 Deletion Syndrome

Chromosome 10q23 deletion syndrome, also known as juvenile polyposis of infancy (JPI), is a rare genetic disorder characterized by the presence of multiple polyps in the gastrointestinal tract. The treatment of this condition typically involves a multidisciplinary approach, including medical and surgical interventions.

mTOR Inhibitors

One of the most promising treatment options for JPI is the use of mTOR inhibitors, such as sirolimus (also known as rapamycin). Studies have shown that these drugs can inhibit polyp growth and reduce morbidity and mortality in children with JPI [2][4].

• Sirolimus has been used to treat patients with JPI, resulting in a significant reduction in polyp number and size [3].
• A case study published in 2024 demonstrated the effectiveness of early sirolimus administration in achieving a positive clinical outcome for patients with JPI [4].

Other Treatment Options

In addition to mTOR inhibitors, other treatment options may include:

• Surgery: Surgical removal of polyps and affected bowel segments may be necessary in some cases.
• Endoscopic interventions: Endoscopic procedures, such as polyp removal or biopsy, may also be used to manage the condition.

Importance of Early Treatment

Early initiation of treatment is crucial for patients with JPI. Studies have shown that early administration of sirolimus can lead to a significant reduction in morbidity and mortality [7].

• A study published in 2022 demonstrated that oral sirolimus therapy initiated at 14 months of age resulted in slowing the rate of polyp proliferation, limiting complications, and improving quality of life for patients with JPI [8].

Conclusion

The treatment of chromosome 10q23 deletion syndrome involves a multidisciplinary approach, including medical and surgical interventions. mTOR inhibitors, such as sirolimus, have shown promise in reducing morbidity and mortality in children with JPI. Early initiation of treatment is crucial for achieving the best possible outcomes.

References:

[1] Not applicable (no relevant information found)

[2] Busoni VB et al. (2019) Treatment with sirolimus in a patient with juvenile polyposis of infancy: A case report [2]

[3] Xiao P et al. (2024) Early administration of sirolimus in patients with JPI: A case study [4]

[4] Septer S et al. (2013) Juvenile polyposis syndrome: A review of the literature and a

The differential diagnosis for chromosome 10q23 deletion syndrome includes several conditions that share similar symptoms and genetic characteristics.

• Cowden syndrome: This is a rare genetic disorder caused by mutations in the PTEN gene, which is also involved in chromosome 10q23 deletion syndrome. Cowden syndrome presents with multiple hamartomas (benign tumors) and an increased risk of certain cancers [6].
• Bannayan-Riley-Ruvalcaba syndrome: This is another rare genetic disorder caused by mutations in the PTEN gene, which is also involved in chromosome 10q23 deletion syndrome. Bannayan-Riley-Ruvalcaba syndrome presents with multiple hamartomas and an increased risk of certain cancers [6].
• Juvenile polyposis syndrome: This is a rare genetic disorder characterized by the presence of multiple polyps (growths) in the gastrointestinal tract, which can increase the risk of cancer. Chromosome 10q23 deletion syndrome has been associated with juvenile polyposis syndrome due to the involvement of the BMPR1A gene [13].
• Cockayne’s syndrome: This is a rare genetic disorder characterized by growth failure, intellectual disability, and characteristic facial features. While not directly related to chromosome 10q23 deletion syndrome, Cockayne's syndrome can be considered in the differential diagnosis due to overlapping symptoms [14].

It's essential to note that the differential diagnosis for chromosome 10q23 deletion syndrome is complex and requires a comprehensive evaluation of clinical presentation, genetic testing, and family history. A thorough diagnostic workup by a qualified healthcare professional is necessary to accurately diagnose this condition.

References: [6] - [13] are cited from the provided context. [14] - Cockayne’s syndrome is mentioned in the context as another rare genetic disorder that can be considered in the differential diagnosis.