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15q 26.2 Deletion

What is 15q 26.2 Deletion ?

15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15.  Depending on the particular region missing, it can be referred as 15q26.1, 15q26.2, or 15q26.3 deletion. Deletions of any of these regions can, to varying extents, affect childhood growth and development.



  • Distal 15q deletion syndrome
  • Monosomy 15q26
  • Telomeric 15q deletion syndrome

15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15.  Depending on the particular region missing, it can be referred as 15q26.1, 15q26.2, or 15q26.3 deletion. Deletions of any of these regions can, to varying extents, affect childhood growth and development.

Rareshare would like to acknowledge Dr. Michael Joseph O’Grady, Department of Paediatrics, Midland Regional Hospital, Co. Westmeath, Ireland; and Professor Anne Slavotinek, Professor of Clinical Pediatrics, University of California, USA for reviewing this content. We would also like to thank Usman Kamran for compiling this information.

15q26 deletions are extremely rare, with a prevalence of less than 1 in 1,000,000.

Name Abbreviation
Distal 15q deletion syndrome Distal 15q deletion
Monosomy 15q26 Monosomy 15q26
Telomeric 15q deletion syndrome Telomeric 15q deletion

Most 15q26 mutations are regarded as de novo mutations, meaning that they arise spontaneously. They are generally caused by a mistake in the formation of the sperm or egg cells, or in the early days following fertilization. De novo mutations are not inherited and there is no family history of the disorder. Currently, there are no environmental factors known to cause these changes.

The symptoms and how severe the disorder will be can vary among affected children. Children in general display symptoms involving, to varying extents, childhood developmental delays. These may involve delays in communication, the development of language, and difficulty learning. Delays in developing motor skills including sitting up or crawling also occur.

In many cases, infants require additional support when feeding. They are observed to have bendy joints, and their facial features are sometimes distinctive and different from those of the rest of the family. In some cases, an observable defect in the diaphragm, known as a diaphragmatic hernia, has been observed. The diaphragm is the muscle that separates the chest cavity from the abdominal cavity. A hernia means that there is a hole in the diaphragm, which can allow organs from the abdominal cavity to push into the chest cavity. Heart problems have also been found in babies, involving an unusual formation, narrowing, or blockages of valves
regulating cardiac blood flow.

Babies with 15q26 deletions have been observed to be very small at birth and have continued growth delays. Babies with 15q26.1 and 15q26.2 deletions are more prone to have seizures.

Sequencing analysis is currently the primary means to detect this deletion. If the deletion is large enough it can be also be detected by looking at a DNA preparation under the microscope.

There are currently no known cures for this disease. Some studies have reported a limited benefit with growth hormone therapy for some children with 15q26.3 deletions.

Presently, symptoms of the condition are treated as they present themselves.

There have been varied outcomes for patients with 15q26 deletions. Of the 24 reported cases studied by Unique, three were unable to overcome childhood heart and lung complications. 14 are reported to be healthy and rarely ill, whilst the remainder suffer from occasional health concerns.

Tips or Suggestions of 15q 26.2 Deletion has not been added yet.


15q26.2 Created by jnstrain
Last updated 23 Sep 2021, 02:53 AM

Posted by Rodayan
22 Sep 2021, 09:34 PM

My daughter has 15q26.2-26.3 deletion including the IGF1R gene. She has minimal side effects, mostly just short stature. She's the only one in New Zealand diagnosed with this at the moment, so it's a bit tough with no medical staff having much of an idea about the deletion. I have to have all the information myself.

Has everyone seen the UNIQUE brochure on ?  Click on English, scroll down to Chromosome 15, and next to 15Q26 click View. Lots of info, this is what my paediatrician printed out for us on diagnosis. 

Also, check out the Magic Foundation at , if you email them they can do a screening for you and the report gives helpful info to show your medical staff. They're interested in getting anonymous data from other IGF1R deletion people, which should help us all.

Posted by jlim73001
28 Oct 2020, 12:36 AM

I'm a 20-year-old who is currently a sophomore majoring in biology. I have a huge passion for genetics because of my diagnosis of 15q26.2 deletion. I was told that I'm the only case (so far) with very minimal side effects from this disorder. The only effects I have are short stature and a compromised immune system. I was diagnosed sometime in 2009-2012

Posted by Mandilee
8 May 2018, 10:20 AM

My daughter is a little over a month old, still in the NICU. We found out about her diagnoses 3 weeks before due date. Due to the limited information and the severe conditions they assumed she was in with a diaphramic hernia, the doctors were sure she wouldn’t have a long life span after birth. My daughter has severe symptoms that are common with the deletions and her main issue is eating. Since she has a cleft palette and us the parents cannot fully come to  a decision on what to do next on her feeding intake is the main reason why she is still a patient in the NICU. Any other child being feed via G-Tube? 

Thank you all for sharing.

View Full Thread (6 more posts)
15q26.1 deletion Created by Gilly
Last updated 9 Jan 2018, 07:10 AM

Posted by Gilly
9 Jan 2018, 07:10 AM

My daughter who is now 4 was diagnosed just after birth, have never searched before for other families. Anyone out there have a child with same disorder? 

test Created by robert_RG
Last updated 27 Feb 2017, 12:30 AM

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Created by jnstrain | Last updated 23 Sep 2021, 02:53 AM

15q26.1 deletion

Created by Gilly | Last updated 9 Jan 2018, 07:10 AM


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