What Is Chromosome 10, Distal Trisomy 10q?

  • Georgia Awcock Master of Science - MS, Epidemiology, The University of Edinburgh, UK
  • Geraint Duffy MSc, Medical Biotechnology and Business Management, University of Warwick, UK
  • Sophie Downton BSc, Biomedical Sciences, University of Reading, UK

Chromosome 10 Distal Trisomy 10q is a rare genetic condition caused by an extra piece of genetic material being present on a part of chromosome 10. This causes various health and physical challenges. 


Chromosomes are bundles of structures that contain our DNA or our genetic makeup that we receive from both our parents. Humans are born with 23 pairs of chromosomes (46 in total), with one of each pair from our mother and the other from our father. Sometimes, when cells go through division, mistakes are made with these chromosomes, causing abnormalities. One of these abnormalities is known as Chromosome 10, Distal Trisomy 10q.

Chromosome 10, Distal Trisomy 10q, is a rare disorder affecting the end part of the long ‘arm’- called q – of chromosome 10. Instead of appearing twice, it appears three times in the cells of the body, hence the name trisomy. Most cases are diagnosed in infancy, with the range and severity of symptoms and findings varying by case. Here, we will discuss in more detail the complexities, clinical features, challenges, and ongoing research of Chromosome 10, Distal Trisomy 10q.

What is chromosome 10 distal trisomy 10q?

A trisomy occurs when someone possesses an extra copy of a chromosome. Here, that chromosome is the distal or end part of the long arm called q of chromosome 10. People with this disorder therefore have three copies instead of two which leads to a rare genetic disorder .1 This can happen when cells divide incorrectly during meiosis (cell division) and cause genetic errors. These genetic errors then go on to impact various aspects of a person's phenotype (a person's visible features/characteristics) and health.

Prevalence and diagnosis

The disorder is extremely rare, affecting only a small percentage of the population. More than 35 cases have been reported in medical literature since it was described in 1974. The majority of the symptoms and physical features associated with the disorder are noticeable at birth. In some cases, diagnosis can be done before birth, otherwise known as prenatally, via specialized testing such as:2

  • Ultrasound imaging.
  • Amniocentesis – a sample of the fluid surrounding the growing fetus is taken and studied.
  • Chorionic villus sampling (CVS) – a tissue sample from the placenta is analyzed. 

Distal trisomy 10q can also be diagnosed after birth by tests such as:2

  • Clinical Evaluation - A physician can look for any symptoms associated with the disorder, such as developmental delays or facial abnormalities.  
  • Genetic Testing such as Karyotyping, Fluorescence In Situ Hybridization (FISH), Chromosomal Microarray Analysis (CMA), or other Genetic testing, e.g. Next-Generation Sequencing (NGS)
  • Medical imaging such as X-Rays, ultrasounds, and MRI scans are used to assess any physical structural abnormalities.

Clinical features and symptoms

The clinical features vary from person to person, and symptoms/physical characteristics associated with the disorder also vary, depending upon the size and location of the duplicated portion of chromosome 10q.  Below is a list of some of the main abnormalities that have been reported in individuals with the disorder:3

Craniofacial abnormalities

  • Early fusion of the facial structures and bones can cause an abnormal head shape.
  • Unusual facial features such as a prominent forehead, round face, widely spaced eyes, flat nasal bridge, and low-set ears.
  • Some individuals may also have a cleft palate.

Intellectual/developmental disabilities

  • Possible delays in reaching milestones such as cognitive development, walking, and talking in early childhood.
  • Many individuals suffer from intellectual impairment, which can range from mild to severe.
  • In some individuals, behavioural problems may also arise.

Musculoskeletal abnormalities

  • Skeletal deformities in limb development such as fusion of fingers and/or toes (syndactyly), curved fingers, or short fingers.
  • Scoliosis - an abnormal twisting and curvature of the spine.
  • Slower growth rates result in a shorter stature.

Cardiac abnormalities

  • Some individuals with the disorder experience heart defects, most of these heart abnormalities are usually congenital, meaning they are present at birth, and vary greatly between individuals.

Gastrointestinal abnormalities

  • Feeding difficulties, gastrointestinal reflux, and malrotation, which is a birth defect that occurs when the intestines do not completely rotate into their normal position during development, causing complications in later life.

Not all affected infants will have all the abnormalities listed above; the presentation of Chromosome 10 Distal Trisomy 10q is extremely variable, and not all individuals will experience the same abnormalities.

Medical and developmental challenges

The challenges associated with Chromosome 10 Distal Trisomy 10q can have a grave impact on various aspects of life. The disorder comes with various medical issues that can vary in severity. Such challenges include heart defects, speech and growth issues, vision or hearing impairments, and issues with the gastrointestinal system. An individual's motor skills (muscle movements) may also be affected. All of these may require specialised care such as speech therapy, as well as occupational and physical therapy from various healthcare professionals.

Current research

Current research for Chromosome 10 Distal Trisomy 10q is focused on gaining a better understanding of the genetic and molecular mechanisms or causes of the condition so that targeted interventions may be developed in the future to improve the quality of life for those affected individuals. Some of the main areas for research include:

  • Investigate the specific genes and pathways that are affected by the extra genetic material that is on chromosome 10 and understand how these genes interact to cause the symptoms and features we see in those with the condition.
  • Examining how the disorder impacts brain development, cognitive function, and behaviour
  • Researchers are exploring the potential for targeted medications that could help address the specific health issues associated with Chromosome 10 Distal Trisomy 10q.
  • Progress is also being made on the possibility of maximising patient outcomes for those with the disorder by focusing on early intervention strategies. With these strategies, they can promote improved developmental progress, better communication skills, and social interactions in those children with the disorder.

Overall, the research into Chromosome 10 Distal Trisomy 10q is multidimensional - many different aspects relating to the disorder are being investigated. Advances in these fields could hold the potential to improve understanding of the disorder, advance diagnosis and provide better care and support for affected individuals.

Chromosome 10 distal trisomy 10q management

Management of the disorder involves input from various medical professionals and patient families. A broad and multidisciplinary approach, including medical, educational, and emotional support resources, is usually involved.

From a medical perspective, managing the condition usually involves an early and accurate diagnosis that leads to timely interventions. Healthcare professionals work to evaluate the potential health issues that arise from the disorder, such as developmental delays, intellectual disabilities, and any physical abnormalities. All treatment plans will be different because they will be specialised for that specific individual. Many treatments will often include medical professionals from various areas of medicine, including speech, physical, and occupational therapies, to help with developmental milestones and quality of life. It is essential that regular medical checkups are attended to monitor the condition and manage any other medical conditions that may be linked to the disorder.

It is not just medical professionals who play an important role in the management of Chromosome 10 Distal Trisomy 10q. Families play a crucial role, especially with the emotional requirements that come with a diagnosis. Support networks also exist in which families can find information and share experiences and coping strategies.
While managing the disorder can be scary and complex, the efforts of medical professionals, families, and support networks contribute to a wider community that is focused on the health and well-being of individuals with Chromosome 10 Distal Trisomy 10q.


Chromosome 10 Distal Trisomy 10q is a chromosome abnormality that involves a disruption in a person's genetic makeup. A trisomy refers to an extra copy of a chromosome, which for Chromosome 10 Distal Trisomy 10q is extra genetic material from chromosome 10. Both pre and postnatal diagnosis are essential for accurate diagnosis. The clinical features range from physical traits to developmental challenges, and the symptoms all vary depending on the individual. Medical and developmental challenges of the disorder impact various aspects of life requiring specialised treatment, and ongoing research aims to uncover genetic mechanisms and potential treatments for the disorder. By both raising awareness and understanding of the disorder with continued research and support, the chances of improved treatment outcomes may become a reality, offering hope to those whose lives have been affected by Chromosome 10 Distal Trisomy 10q. 


What is chromosome 10 distal trisomy 10q?

Chromosome 10 Distal Trisomy 10q is a rare chromosomal disorder where an extra piece of genetic material exists on the long arm (q) of chromosome 10. This extra piece of genetic material can lead to various physical, developmental, and health challenges.

What causes chromosome 10 distal trisomy 10q?

When the reproductive cells (egg and sperm) form an embryo, an error can be made in the genetic material. Here, extra genetic material is present on chromosome 10.

What are the common symptoms of chromosome 10 distal trisomy 10q?

The symptoms vary for everyone. Symptoms may include developmental delays, intellectual disabilities, speech and language issues, growth abnormalities, heart defects, and facial abnormalities. The severity and combination of symptoms differ from person to person.

How is chromosome 10 distal trisomy 10q diagnosed?

Via a combination of clinical evaluation and genetic testing by trained healthcare professionals. This testing can be done either prenatally or postnatally.

Is there a cure for chromosome 10 distal trisomy 10q?

Currently, no cure exists for the disorder. Treatment involves managing the symptoms and providing the best supportive care to affected individuals and their families.

Can people with chromosome 10 distal trisomy 10q live fulfilling lives?

Yes, with the appropriate care and support, individuals with the disorder can lead meaningful lives.

Is chromosome 10 distal trisomy 10q hereditary?

Most cases of the disorder are not hereditary, that is it is not passed on from parents /grandparents. Most cases occur sporadically and result from random genetic events. In rare cases, the disorder may be passed down from a parent who has a balanced chromosomal rearrangement. 


  1. Wong SL, Chou HH, Chao CN, Leung JH, Chen YH, Hsu C Da. Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: The Wnt signalling pathway is the most pertinent to the gene content in the region of copy number gain: A case report Case Reports. BMC Res Notes. 2015 Jun 19;8(1).
  2. Davies J, Jaffé A, Bush A. Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. J Med Genet. 1998;35(1):72–4. 
  3. Davies J, Jaffé A, Bush A. Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. J Med Genet [Internet]. 1998 Jan [cited 2023 Nov 9];35(1):72–4. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051193/
This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Georgia Awcock

Master of Science - MS, Epidemiology, The University of Edinburgh

Georgia is an Epidemiologist with experience in the pharmaceutical and medical industries with a background in both management and clinical roles within the NHS and private sectors. She has a special interest in Public Health, specifically Non-Communicable Diseases, such as Heart Disease and Cancer and has worked alongside Oncologists on clinical studies concerning potential drug treatments.

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