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What is Chromosomal Deletion?

Jun 22nd, 2023 | by Sarah Healy

Sarah Healy

June 22nd, 2023

What is Chromosomal Deletion?

Chromosomes are structures within cells that contain DNA and many genes. Genes are segments of DNA and contain the code for a specific protein that functions in one or more types of cells in the body. Genes contain instructions that determine how the body is supposed to look and function. Chromosomal deletion syndromes occur when part of a chromosome is missing. When parts of chromosomes are missing, several syndromes can occur. These syndromes are called chromosomal deletion syndromes. They tend to cause birth defects, intellectual disability, and problems with physical development.

What is the Cause of Chromosomal Deletion?

Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. Heat, viruses, radiation, or chemical reactions can induce the breaks. When a chromosome breaks, if a part is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency.

How is Chromosomal Deletion Diagnosed?

Chromosomal deletion syndromes are diagnosed through a combination of clinical evaluation, genetic testing, and medical history.

  • Clinical Assessment:
    • A healthcare professional examines the individual for physical signs and symptoms associated with chromosomal deletions. These may include facial features, growth patterns, and developmental delays.
    • Family history is also considered, as some syndromes have a hereditary component.
  • Genetic Testing
    • To examine the chromosomes’ structure and number. It can identify large deletions or other chromosomal abnormalities.

What Are Some Signs and Symptoms of Chromosomal Deletion?

Chromosomal deletion can lead to various associated signs and symptoms depending on the affected chromosome. Symptoms may include:

  • Cleft palate
  • Heart defects
  • Recurrent infections
  • Unique facial characteristics
  • Feeding problems
  • Kidney abnormalities
  • Hypoparathyroidism
  • Thrombocytopenia

What Are Some Treatment Options for Chromosomal Deletion?

As chromosomal deletion is a genetic condition, there is currently no cure. Treatment primarily focuses on any medical or developmental issues. Early intervention should begin as soon as a diagnosis has been made, as it can result in significant improvements in gross motor, fine motor, and communication skills. Some physical defects can be corrected with surgery, but generally, treatment is supportive. The treatment approach varies from case by case but can look like a multi-disciplinary approach to therapy with Occupational Therapy, Physiotherapy, Speech Pathology, Dietician, and psychological intervention to support specific deficit areas.

About the Author

Sarah chose Occupational Therapy because she loves helping other people. She joined the NAPA Sydney team in 2023 to continue her learning in paediatric practice. When Sarah is not at work, she enjoys outdoor pursuits such as hiking, running, going to the gym, and spending time with her friends. She is friendly and approachable and always happy to help others!

About NAPA Centre 

NAPA paediatric therapists address areas of Global Developmental Delay through physiotherapy, occupational therapy, and speech therapy. Learn more.

NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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