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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.

 

Synonyms

  • 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.

Diagnostic tests of 15q 26.2 Deletion has not been added yet

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 8 May 2018, 10:20 AM

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.

Posted by KPKsMom
26 Feb 2018, 03:01 PM

Our Daughter is 11 and was diagnosed within a few days of birth. She is the most normal, sassy, fun 11 year old. She is very short (54 inches) but is on Growth Hormone to help that. She started it in June of 2016 and since then has grown 4 inches so it's working. The Endocrinologist thinks she may hit 5 feet!  I'd be OK with that for sure. School does not come easy to Krysha. She has needed extra help and also get tutoring. She has a bit of ADD and takes medicaiton for that which does help. The Dr's initially told us that any chromosomal abnoramality can cause learning issues. Honestly, I don't know if it's the deletion or just her. Meaning, if she'd never been diagnosed, we would just think school is tough. However, since we did know, we had her in the best accredited daycare we could find and have tried to give her as many advantages as we couild.

Posted by Cdmr
25 Feb 2018, 01:27 PM

Our daughter was diagnosed at 2 weeks with this deletion and is now 4 months. She is extremely small but strong and healthy so far. 

View Full Thread (4 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? 

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Last updated 27 Feb 2017, 12:30 AM

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Last updated 20 Mar 2013, 12:02 PM

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15q26.2

Created by jnstrain | Last updated 8 May 2018, 10:20 AM

15q26.1 deletion

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

test

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

http://www.healthyapplechat.com/crazy-mass-reviews/

Created by harlyperim | Last updated 6 Feb 2016, 03:18 PM

Let's Help, I helped!

Created by Tiago007 | Last updated 20 Mar 2013, 12:02 PM


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