1p36 Deletion Syndrome
If you have just found out through prenatal testing that your baby has or may have 1p36 deletion syndrome and are looking for more information, the Genetic Support Foundation is a good starting point. Below you will find information about this condition as well as a list of resources that can provide you with additional information and support. After reviewing the information below, if you have a question that you are having difficulty finding an answer for, please feel free to contact us.
1p36 deletion syndrome is associated with a variety of health and developmental concerns. It is important to remember that each individual with 1p36 deletion syndrome is unique. All individuals with 1p36 deletion syndrome have some degree of developmental and intellectual disabilities, and most of the time these disabilities are on the more severe end of the spectrum. Other common health concerns are hearing and vision problems, seizures and heart conditions.
What is life like for people with 1p36 deletion syndrome?
People with 1p36deletion syndrome can have loving relationships with friends and family, learn and make progress in their social skills and communication at their own pace. The majority of individuals with 1p36 deletion are expected to need support and care over their lifetime given their disabilities and health concerns. Testing for the 1p36 deletion syndrome has only been widely available for the past decade, and research is ongoing. We are still learning a lot about 1p36 deletion syndrome.
This video can provide some additional information and insight about 1p36 deletion syndrome.
1p36 deletion syndrome is caused by a deletion on the short arm (“p”) of one copy on an individuals 1st chromosome. This deletion results in the loss of several genes. The deletion can be said to be de novo, and sporadic, which means that it was not passed down from a parent – it is brand new in the individual who is diagnosed with the condition. In this case, the deletion occurs in the development of an egg or a sperm or early in the development of the embryo and is then copied over into every cell in that person’s body.
Sometimes, one of the parents of a child with 1p36 deletion syndrome carries a chromosome rearrangement, such a translocation that can increase the chance to pass on the 1p36 deletion. If a child is diagnosed with 1p36 deletion syndrome, then the parents can undergo genetic testing to determine if either of them have a rearrangement involving chromosome #1 that could increase the chance to have another baby with 1p36 deletion syndrome.
The health and development characteristics in an individual with 1p36 deletion syndrome vary from person to person. It is important to recognize that it has only been within the last decade or so that people have been diagnosed with 1p36 so research about 1p36 deletion syndrome is growing and what we know about this condition is expected to continue to expand in the coming years.
- Hypotonia- low muscle tone, especially in babies
- Intellectual disability – All individuals with 1p36 deletion have intellectual disability and it is most often severe, although some individuals will have more mild to moderate intellectual disability
- Speech difficulties– many children with 1p36 deletion syndrome do not speak. However, many children with a 1p36 deletion learn to communicate in other ways including, using expression, vocal noises, gestures and body movements, copying the actions of others and in some cases, sign language.
- Heart conditions
- Hearing and vision difficulties
- Digestive disorders and feeding difficulties
The chance to have another baby with 1p36 depends on whether or not one of the parents carries a chromosome rearrangement involving chromosome #1. A carrier of a balanced chromosome rearrangement is not expected to have related health or developmental concerns because they do not have any extra or missing chromosome material (hence the term “balanced” rearrangement). However, individuals with balanced rearrangements have a higher chance to pass on an unbalanced amount of chromosome information to their children, such as a microdeletion.
There is no “cure” for 1p36 deletion. Typically, the 1p36 deletion is copied over into every cell in the person’s body and the missing genes and proteins cannot be fixed or replaced in those cells. Screening for detection and treatment of various health concerns can be important to reduce complications associated with this condition. Individuals with 1p36 deletion may need evaluation and follow-up and from various health specialties depending on their specific needs including developmental pediatricians, cardiologists, neurologists, orthopedists, otolaryngologists and nutritionists. Intervention programs such as speech, physical, occupational, and/or educational therapy can help individuals with 1p36 reach their full potential.
It is important to recognize that the health and developmental effects of 1p36 vary from person to person. A gradual increase in social interaction, motor skills and communication can be expected over time. Most individuals with 1p36 have moderate to severe intellectual disabilities and are expected to need care and support over their lifetime. Life expectancy is unknown. As research continues for this newly recognized condition, we expect to learn more about the long term outlook for people with 1p36 deletion syndrome.
1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns.
1p36 Deletion Support & Awareness (1p36 DSA) was founded in 2009 by parents of children diagnosed with 1p36 Deletion Syndrome in hopes to bring support to families and greater awareness to society regarding this condition.
Information on 1p36 deletion syndrome from the organization, Unique – Rare Chromosome Disorder Support Group
1p36 Study Day Report – Unique- Rare Chromosome Disorder Support Group
Battaglia A. 1p36 Deletion Syndrome. EditorsIn: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 2008 Feb 01 [updated 2013 Jun 06].
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404–10.
Questions? Get in touch