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3p25 Deletion Syndrome

What is 3p25 Deletion Syndrome?

Loss of genetic information at key genomic locations can lead to disease. 3p25 deletion syndrome is a condition resulting from the deletion of a small portion of DNA at the terminal region of chromosome 3, designated as position 3p25. This genetic alteration can lead to developmental delays, intellectual disability, and abnormal facial features. However, the disease manifestation varies broadly and each individual with 3p25 deletion syndrome is unique and can have different developmental and medical concerns. 

 

 

Synonyms

  • 3p deletion syndrome
  • Chromosome 3p- (three p minus) syndrome

Loss of genetic information at key genomic locations can lead to disease. 3p25 deletion syndrome is a condition resulting from the deletion of a small portion of DNA at the terminal region of chromosome 3, designated as position 3p25. This genetic alteration can lead to developmental delays, intellectual disability, and abnormal facial features. However, the disease manifestation varies broadly and each individual with 3p25 deletion syndrome is unique and can have different developmental and medical concerns. 

 

Acknowledgement of 3p25 Deletion Syndrome has not been added yet.

3p25 deletion syndrome is likely to be very rare. Around 50 people have been identified with 3p25 deletion. However, this syndrome is likely under-diagnosed because some people with the deletion are not or only mildly affected.

Name Abbreviation
3p deletion syndrome 3p deletion syndrome
Chromosome 3p- (three p minus) syndrome Chromosome 3p- (three p minus) syndrome

The cause of 3p25 deletion syndrome is the deletion of the genetic material on the terminal region of the short arm (or p arm) of chromosome 3. In the majority of the cases, the deletion is not inherited from either parent and presents for the first time in the affected individual (also known as de novo). The deletion only needs to be present on one of the chromosome 3 for the disease to manifest. 

 

Researchers have been working to identify genes in the deletion region that are responsible for the disease. 4-71 genes can be deleted in patients with 3p25 deletion syndrome. Many of the deleted genes play essential roles in brain development and cognition. In particular, SETD5 is located in this region, and the loss or mutations of SETD5 are associated with autism, intellectual disability, and global developmental delay. Another gene that is sometimes deleted is VHL, which causes von Hippel-Lindau syndrome. People who have lost one copy of the VHL gene have increased susceptibility to tumors and abnormal blood vessel growth. Depending on which genes and the number of deleted genes, patients may experience different disease severity.

 

More than 80% of patients with 3p25 deletion syndrome have developmental delay, cognitive impairment, wide-set eyes, and drooping eyelids. More than 30% of the patients have a downturned mouth corner, cleft palate, weak muscle tone, and small brain. Other clinical presentations include seizures, autism spectrum disorder, hearing impairment, language impairment, intestinal problems, and congenital heart defects.

The diagnosis of 3p25 deletion syndrome is established by identifying the single allele deletion at the 3p25 position through analyses of patients’ chromosomes. 3p25 deletion syndrome can be diagnosed by karyotyping, which produces a chromosome image of the patient to identify large chromosomal deletions. Targeted deletion analyses such as fluorescence in situ hybridization (FISH) can also be used to detect smaller chromosomal deletion in combination with karyotyping.

Diagnostic tests of 3p25 Deletion Syndrome has not been added yet

Since 3p25 deletion syndrome can affect a broad range of organ systems of the body, a team of doctors is needed to manage the disease. Also, treatments and proper management are offered based on each patient’s unique clinical features. Notably, infants with delayed motor skills can be helped by occupational therapists. Kids with language impairment can be referred to a speech therapists. Behavioral therapy is often useful for affected patients with autism spectrum disorders.

Depending on the clinical manifestation of the disease, the long-term outlook for each person can vary significantly. A small number of people with 3p25 deletion develop normally and have no learning difficulties. For the majority of the cases, the disease severity depends on the size of the deletion and the genes involved. Early diagnosis and proper management of the symptoms can provide a better prognosis for the affected individuals.

Tips or Suggestions of 3p25 Deletion Syndrome has not been added yet.

3p25 Deletions. Unique. 2014; http://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf.

3p deletion syndrome. Genetics Home Reference

https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome#diagnosis

Yagasaki H, Toda T, Koizumi K, et al. A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation. Pediatr Neonatol. 2018;59(3):319-321. doi:10.1016/j.pedneo.2017.09.004

Chou A, Toon C, Pickett J, Gill AJ. von Hippel-Lindau syndrome. Front Horm Res. 2013;41:30-49. doi:10.1159/000345668

Fernandes IR, Cruz ACP, Ferrasa A, Phan D, Herai RH, Muotri AR. Genetic variations on SETD5 underlying autistic conditions. Dev Neurobiol. 2018;78(5):500-518. doi:10.1002/dneu.22584

 

Community Details Update Created by RareshareTeam
Last updated 21 Jul 2020, 11:05 PM

Posted by RareshareTeam
21 Jul 2020, 11:05 PM

Hi everyone,

The 3p25 Deletion Syndrome community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful. 

 

Best regards, 

Rareshare Team 

3p25 deletion syndrome Created by Ghadeer
Last updated 16 Oct 2017, 10:12 PM

Posted by cleanbandit
16 Oct 2017, 10:12 PM

Hi, my currently 7-month-old baby girl has a small deletion of 3p25.3 as well as a large deletion of 3p26.3-p26.1.  Her features currently include feeding difficulties (slow eater with small/erratic appetite, reflux); some hypotonia in the neck area (affecting eating, head control for gross motor skills, and communication); and developmental delay.  In terms of delay, she has sometimes rolled over by herself in her crib at night, but she cannot or will not bear weight on her arms to "push up."  Her head control is still iffy at times.  She has always HATED tummy time--screamed bloody murder and cried real tears--in any format, even on our chests or laps. As a result, she has developed some plagiocephaly and will wear a helmet for awhile.  She has only just started to babble a little bit, usually saying "oo-la" or "ma-ma."  She also has milk protein intolerance, although I'm not sure if that's really a result of the deletion as it is not mentioned in Rarechromo.org's brochure.  She was born with a very small omphalocele and VSD, but these were ultimately of no long-term concern. She has an anomaly of her left optical nerve, but the neuro-ophthalmologist considers it to just be an anomaly so far and nothing of consequence; her vision is good for now.  I am still waiting to see the geneticist, neurologist, and audiologist. She is currently receiving physical therapy and speech therapy and being monitored by a gastroenterologist and dietitian as well.

I am wishing you all the best on this difficult journey.  Feel free to message me at any time. 

Posted by Ghadeer
22 Nov 2013, 12:27 PM

Hi guys It seams that this deletion's symptoms is really random and it's Diff. With every child I got a lot of info from from rarechromo .org Unique You can follow them in twitter or you can email them and they will connect you with other families with the same deletion But like I said it varies some kids severely affected and some has few difficulties My son is definitely have a sensory disfunction Also farsighted and he had a tosis ( droopy eye lid ) fixed by operation He will be 3 years old doesn't walk but he crawls suffers from low muscle tone especially in his legs has a very poor balance I hope he'll walk soon with physiotherapy He doesn't talk or make signs or anything Just crys or makes strange sounds if he sees me He doesn't eat by himself doesn't chew only eats with spoon I hope I could help but as you can see I don't have answers Time will only show me how far can he get I have no expectation but I wish him the best and I will never lose hope I wish you the best it's a hard life Stay strong : )

Posted by AndreaSchumann
10 Sep 2013, 06:58 AM

I would love too answer any questions. I am on Facebook and YouTube I have made videos of my boy if you want to take a look. I think he has sensory issues but the medical people take forever here. He also dosent talk but uses some signs. If u want to talk more search my name on you tube. Andrea

View Full Thread (3 more posts)
Canadian Created by AndreaSchumann
Last updated 30 May 2013, 11:10 PM

Posted by Kyliesmom
30 May 2013, 11:10 PM

Andrea, my name is Amanda. My daughter Kylie has 3p25 deletion and I have been trying to get your info from unique. I have been watching your YouTube videos and it seems that your son and my daughter have many of the same affects from the deletion and I would love to talk to you. Hope to hear from you! Sincerely, Amanda

Posted by AndreaSchumann
26 Feb 2013, 04:11 AM

Hello my name is Andrea. I have 3 children my middle boy Has 3P25.3 intersial denovo deletion. I have been on the Unique website I was tiold about this one so I thought I would come and check it out.

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I am a first-time mom whose 7-month-old baby girl was diagnosed a month ago with a chromosome 3p deletion affecting largely 3p26.3p26.1 and some of 3p25.3.

I am the mother of a 33 year old female with 3p25 she was diagnosed at nine months and we were told at that time that there were only two others that they knew of and they were both in...
A mother of a 14-mo. old baby who was diagnosed with 3p25 deletion syndrome.
I am a mom to 2 wonderful little boys. My 2 1/2 year old is diagnosed with deletion of chromosome 3, developmental delay and sensory input disorder. My 1 year old looks up to him and loves him so...
My boy Has 3P25.3 intersial denovo deletion. We are looking to see if there is anyone else with this deletion.
I'm from kuwait

 

A mother of 2 boys

 

One with 3p25 deletion
Mom to 7 great kids. My youngest child is nine months old, recently diagnosed with 3p 25 deletion. A little about baby Zayden- He was born with Polydactyly and a heart valve cleft. He struggled...
A support system for a Mom with a newly diagnosed daughter with 3P25 Deletion Syndrome.
i have a 6 year old daughter and she has a chromosome deletion 3p25.

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Community Details Update

Created by RareshareTeam | Last updated 21 Jul 2020, 11:05 PM

3p25 deletion syndrome

Created by Ghadeer | Last updated 16 Oct 2017, 10:12 PM

Canadian

Created by AndreaSchumann | Last updated 30 May 2013, 11:10 PM


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