Definition

What is chromosome 10p deletion?

Chromosome 10p deletion is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.

How common is chromosome 10p deletion?

Around 50 cases of pure distal monosomy 10p have been reported. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of chromosome 10p deletion?

The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p.

However, associated features often include severe intellectual disability; growth delays after birth (postnatal growth retardation); distinctive malformations of the skull and facial (craniofacial) region; a short neck; and/or structural defects of the heart that are present at birth (congenital heart defects).

Several cases have also been reported in which affected individuals have some features of DiGeorge syndrome (DGS). DGS is a congenital disorder characterized by underdevelopment or absence of the thymus and parathyroid glands, potentially causing abnormalities of the immune system, deficient production of parathyroid hormone (hypoparathyroidism), a heart defect, and associated findings.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes chromosome 10p deletion?

In many cases, chromosome 10, monosomy 10p appears to occur spontaneously (de novo) for unknown reasons.

Risk factors

What increases my risk for chromosome 10p deletion?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is chromosome 10p deletion diagnosed?

Diagnosis requires cytogenetic analysis and molecular characterization and should include a search for a translocation because deletion may be the result of transmission of a derivative chromosome.

The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype.

Prenatal diagnosis is feasible and genetic counseling should be proposed and depends on the cytogenetic rearrangement responsible for the deletion (de novo or translocation).

How is chromosome 10p deletion treated?

The treatment of Chromosome 10, monosomy 10p is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; specialists in the functioning of the immune system (immunologists); endocrine disorder specialists (endocrinologists); physicians who diagnose and treat heart abnormalities (cardiologists); hearing specialists; and/or other health care professionals.

The treatment of affected individuals is symptomatic and supportive. For those with hypoparathyroidism, treatment may include administration of calcium and vitamin D, which aids in calcium absorption. For individuals with an increased susceptibility to recurrent infections, the use of particular antibiotic, antiviral, and antifungal medications and other agents may be required to help prevent and aggressively treat certain infections.

Physicians may also recommend corrective surgery for certain craniofacial and/or other malformations potentially associated with monosomy 10p. In addition, for those with congenital heart defects, treatment with certain medications, surgical intervention, and/or other measures may be necessary. The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors.

Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for families of affected children. Other treatment for this disorder is symptomatic and supportive.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage chromosome 10p deletion?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: December 19, 2017 | Last Modified: December 19, 2017

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