Chromosome 10p terminal deletion syndrome

Chromosome 10p terminal deletion syndrome is a rare genetic disorder characterized by the deletion of the terminal portion of the chromosome 10p. This condition is also known as 10p deletion syndrome or 10p- syndrome. It is a type of chromosomal deletion syndrome which can lead to a wide range of developmental and physical abnormalities. The syndrome is caused by a deletion on the short arm of chromosome 10, specifically at the terminal end. The size and location of the deletion can vary among individuals, leading to a spectrum of symptoms and severity.

Symptoms and Characteristics

The symptoms of Chromosome 10p terminal deletion syndrome can vary widely among affected individuals. Common features include:

• Developmental delay and intellectual disability
• Microcephaly (small head size)
• Facial dysmorphisms such as wide-set eyes, low-set ears, and a broad nasal bridge
• Congenital heart defects
• Growth retardation
• Cryptorchidism in males (undescended testes)
• Skeletal abnormalities
• Hearing loss
• Speech and language delays

Causes

Chromosome 10p terminal deletion syndrome is caused by a deletion on the short arm of chromosome 10. The exact mechanism leading to the deletion is not fully understood, but it may involve errors during the formation of reproductive cells or in early fetal development. This deletion removes several genes from the chromosome, but the specific genes involved and their functions are not completely known. The syndrome is typically not inherited but occurs as a random event.

Diagnosis

Diagnosis of Chromosome 10p terminal deletion syndrome is based on clinical evaluation, family history, and confirmed through genetic testing. Karyotyping and fluorescence in situ hybridization (FISH) are commonly used to identify the chromosomal deletion. More recently, array comparative genomic hybridization (aCGH) has been utilized for its ability to detect smaller deletions that may not be visible with traditional karyotyping.

Management and Treatment

There is no cure for Chromosome 10p terminal deletion syndrome, and treatment is symptomatic and supportive. Management may involve a team of specialists, including pediatricians, cardiologists, neurologists, speech therapists, and physical therapists, among others. Interventions may include:

• Surgical corrections for congenital anomalies
• Special education programs and speech therapy for developmental delays
• Physical therapy to improve motor skills
• Regular monitoring and treatment for heart defects and other health issues

Prognosis

The prognosis for individuals with Chromosome 10p terminal deletion syndrome varies depending on the severity of symptoms and the presence of congenital anomalies. Early intervention and supportive care can improve the quality of life and developmental outcomes for many affected individuals.

See Also

• Chromosomal deletion syndrome
• Genetic disorder
• Developmental delay
• Congenital heart defect

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