4q33 Deletion
What is 4q33 Deletion?
4q33 Deletion a rare disorder caused by a partial deletion of chromosome 4. It is terminal deletion on the long arm (q) of chromosome 4. Symptom manifestation depends on where and how much of chromosome 4q is loss. The chromosome segment from 4q31 to 4q35 often involves abnormalities of the head and face, cognitive imapirement, digital or limb dysmorphism, and defects of the heart, eyes, or genitourinary.
Synonyms
- 4q33 Deletion Syndrome
4q33 Deletion a rare disorder caused by a partial deletion of chromosome 4. It is terminal deletion on the long arm (q) of chromosome 4. Symptom manifestation depends on where and how much of chromosome 4q is loss. The chromosome segment from 4q31 to 4q35 often involves abnormalities of the head and face, cognitive imapirement, digital or limb dysmorphism, and defects of the heart, eyes, or genitourinary.
| Name | Abbreviation |
|---|---|
| 4q33 Deletion Syndrome | 4q33 Deletion |
If the gene is autosomal dominant and only one parent is affected, there is a half chance that the offspring is affected. If the parents of an affected child do not have symptoms, the chance of another affected offspring is lower because the affect child has a genetic mutation that is new.
If the gene is autosomal recessive and only one parent is the carrier, the offspring’s risk or occurrence is very low. Most recessive conditions are rare and is unlikely to affect an individual who marries a carrier.
The manifestation of the symptoms depend on the location of the deletion and how many segments are deleted. The symptoms typically manifest unilaterally, meaning one sided. Deletion between 4q31.2 to 4q35.2 manifests as craniofacial dysfunction of the left side of the face. Craniofacial dysfunction is a deformity of the head, skull, face, neck, and jaw. Other manifestations include ipsilateral ptosis (the falling of the upper eyelid of the same side of the body), developmental delays, erythroderma (the reddening of the skin), and bilateral thumb anomalies (missing, incomplete, or amputated deficiency of the thumb). Deletion at the 4q33 region is also associated with ulna deficiency, cleft lip and palate, and slow brain development.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371530/
https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-15-7
Last updated 20 Jan 2023, 04:15 AM
20 Jan 2023, 04:15 AM
Hi
Just found out my baby (19 weeks in utero) has 4q 33 terminal deletion. We are doing everything we can to find out more information on this. It's really hard to find information on these types of cases and I really would like to learn more.
Are there any insights or information on this that anyone would be willing to share with me? We are being encouraged by Drs to consider termination but there just isn't enough information out there to help us make this difficult decision. I want more than anything to keep my baby and fro him to be happy and healthy!
Last updated 20 Jan 2023, 04:07 AM
20 Jan 2023, 04:07 AM
Hi,
I just found out my baby (19 weeks in utero) has 4q 33 terminal deletion. Doing everything we can to find out more information on this. Did your son face a lot of medical problems when he was young and does he still deal with them now? FInding our this information now while I'm still pregnant I don't know what choice to make regarding keeping the baby or terminating because there is just not enough information out there.
Do you have any more information or insights you can please share with me? Thank you so much!
19 Jun 2015, 10:31 PM
My son is 29 years old this Sept. When he was born and diagnosed, we had no information on this. His deletion is also somewhere near the 33 band (4q-). He is also autistic. If anyone would like to ask questions, I would be happy to help!
Last updated 14 Jul 2013, 03:28 AM
14 Jul 2013, 03:28 AM
Hi I am a new member, my son is 11 years old, 4qdel, he is having a really hard time with managing his anger, any advice or experience to share with me ? I am desperate to help him and see him to be a happy boy as he used to be. Mara
Last updated 22 Dec 2012, 06:30 AM
22 Dec 2012, 06:30 AM
Hi, my grand son has also 4q33 deletion. He is now 9. It seems condition varies - he did not have any internal problem but he has cleft pallet, over wrapping toes, pointed pinkies with double joints. 3rd grade work is getting difficult and still have hard time adjusting new situations and dealing with his emotions. I would say he is emotionally immature. Since there are few of them and the condition varies so much that we have no idea what to expect. I was hoping to find older children with the same condition but so far I have not. I think we are in a same boat - lots of questions with no answers! He sees regular docs, speech therapist and in a process for behavior diagnosis.
21 Dec 2012, 01:39 AM
Hi, my name is Danielle, my daughter is 8 yrs old and has a interstitial deletion occuring denovo of 4q32.2-33. I have not found many with her similiar deletion. I also have not found a doctor who will see her and just do a general workup on her. She has urological issues that we have dealt with since she was an infant and just recently have found out she has a genital malformation and thats all we were told is that it was not normal and no other information. We live in the US, not sure if any of yall do. I was wondering really if yall had any info on anything. drs, behaviors, sickness, infections, education issues. I have lots of questions with no answers.
28 Feb 2012, 11:03 PM
Hello, my name is Barton. I am the father of 3 boys. Our youngest Michael, was born with distal 4q 32-34. He is 15 yrs. this month and we are so proud. He has fought hard and is doing great. At the time of his birth there were only 22 reported cases. 15 of those died before 15yrs. Back then the doctors gave us little hope. He was born with Pierre-Robin syndrome (Small jaw and large tounge), a hole in his heart and unclosed ductess vein in lungs. Double hernya, deformed hands, and elongated feet. So far, he has had 2 Fundo placations, Cleft palet repair, Exploratory sergery, witch they found his appendex inflamed and in the wrong location. followed by appendectomy. One sergery on his hand, with no success. He had a traciostomy for 2yrs. and we fed him with a tube. Needless to say my wife and I were devistated. (pls excuse my spelling) Now some good news. He is doing great. He is ADHD and on medication. To look at him you would never know he had a problem. Everyone in town knows Michael. He is a little behind mentaly but otherwise he's a BOY. Hope this little bit helps you some. Makes me feel better just talking some about it.. All in all just LOVE THEM...
Last updated 14 Jun 2012, 02:41 PM
14 Jun 2012, 02:41 PM
My grandson is now 9 years old. He has learning difficulty especially in math. Parenets held him back 1 year that seems to help. From beginning, he had bad temper but it is getting more obvious that he need help in managing his anger and frustration as well as care givers to deal with him. I am wondering if any of you with same situation and would like to know what helped. Thank you!
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Just found out my baby (19 weeks in utero) has 4q 33 terminal deletion. Doing everything we can to find out more information on this.
PLEASE anybody outhere!!!
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Need help! 4q 33 terminal deletion detected in current pregnancy
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