Chromosome 10 - Expression, diagnosis and treatment

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Article written by Dr. Han Thi Thu Huong, Vinmec High-Tech Center
Chromosome 10, Monosomy 10p is a rare chromosomal disorder that causes severe intellectual disability, craniofacial anomalies, developmental delay after birth, and congenital heart defects. What are the symptoms and causes of the disease? Is there any treatment?

1. Chromosome 10, Monosomy 10p

Chromosome 10, Monosomy 10p also known as 10p deletion syndrome is a rare chromosomal disorder caused by the loss of the short arm of chromosome 10. 10p deletion syndrome has been reported in The first medical literature was published in 1970. The prevalence of the disease is usually higher in men than in women.

2. Manifestations and symptoms

Range and severity of symptoms may vary depending on the location or size of the lost segment. The characteristic manifestations of this syndrome are severe intellectual disability; postnatal growth retardation; craniofacial malformations; Short neck and congenital heart defects. Some cases have some features of DiGeorge syndrome (DGS) such as insufficiency of the thymus and parathyroid glands, which reduces the activity of the immune system, hypocalcemia...

3. Cause

Most people are born with 23 pairs (for a total of 46) chromosomes in every cell of the body. Each chromosome consists of a long arm (q) and a short arm (p) separated from each other by a centromere. Monosomy 10p is a chromosomal disease caused by the loss of a short arm on chromosome 10. Deletions occurring closer to the centromere result in a phenotype with features similar to DiGeorge syndrome. The diastolic deletion is associated with mutations in the GATA3 gene, leading to hypoparathyroidism, deafness, and renal abnormalities and is known as the HDR syndrome.
In some cases, monosomy 10p seems to occur spontaneously (de novo) for unknown reasons very early in embryonic development. Parents of a child with a "de novo" deletion usually have normal chromosomes and the risk of having another child with a chromosomal abnormality is relatively low. In some cases the 10p deletion appears to be the result of a "balanced translocation" mutation in the parental pairs. If the chromosomal rearrangement is balanced, i.e. the set of chromosomes is altered but there is no excess or lack of genetic material, it may be harmless to the mutation carrier but may increase the risk of developing the disorder. chromosomal abnormalities in offspring.

4. Diagnosis

Monosomy 10p can be diagnosed prenatally with amniocentesis and chorionic villus sampling (CVS) or postpartum on a peripheral blood sample to perform cytogenetic tests such as Karyotyping (Chromosome Formulation). , FISH (Fluorescent In-situ Hybrid), Array-CGH (Comparative Genome Hybrid). Specialized tests may also be performed to help detect and characterize certain abnormalities that may be associated with the disorder, such as the assessment of blood calcium levels; Immunology; advanced imaging techniques to characterize abnormalities of the thymus, parathyroid glands, and brain (ultrasound, computed tomography [CT], magnetic resonance imaging [MRI]); and evaluate the structure and function of the heart (radiography, electrocardiogram [EKG], echocardiography)...

5. Treatment

Chromosome 10, monosomy 10p affect each person very differently, so treatment and interventions must be tailored to the needs of each individual with the disease. Treatment may require the coordination of a team of medical professionals such as a pediatrician; operated doctor; immunologist; specialists in endocrine disorders; cardiologist; hearing specialist; and other health care professionals.
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References: rarediseases.org