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Chromosome 14 Deletion

What is Chromosome 14 Deletion?

Chromosome 14 Deletion is a rare chromosomal disorder.

 

Chromosome 14 Deletion is a rare chromosomal disorder.
Acknowledgement of Chromosome 14 Deletion has not been added yet.
Prevalence Information of Chromosome 14 Deletion has not been added yet.
Synonyms for Chromosome 14 Deletion has not been added yet.
Cause of Chromosome 14 Deletion has not been added yet.
Symptoms for Chromosome 14 Deletion has not been added yet.
Diagnosis of Chromosome 14 Deletion has not been added yet.
Diagnostic tests of Chromosome 14 Deletion has not been added yet
Treatments of Chromosome 14 Deletion has not been added yet.
Prognosis of Chromosome 14 Deletion has not been added yet.
Tips or Suggestions of Chromosome 14 Deletion has not been added yet.
References of Chromosome 14 Deletion has not been added yet.
Son w/Chromosome 14q deltion Created by sandradee
Last updated 30 Jan 2016, 06:11 PM

Posted by DJoyBailey
30 Jan 2016, 06:11 PM

Hello! I was glad to see this community listed when I joined! After reading through all of your stories, by heart goes out to all of you, and yet I also felt somewhat comforted to read such similarities. My daughter is 11 and has 14q11.2 deletion as well as a terminal duplication on 18p 11.32 - 18q12.1 (unbalanced translocation). She has Partial Agenesis of the Corpus Collosum, Septo-Optic Dysplasia, Epilepsy (started out as complex partial seizures and has recently changed into symptomatic generalized seizures), hypopituitarism, common variable immune deficiency, neuromuscular scoliosis (had 3 spinal surgeries included fusion from T2-L5 this last March), Epstein's anomaly, bicuspid aortic valve, slightly dilated aorta, VSD and ASD, born with a choledocal cyst which was removed along with her entire bile duct and gallbladder and reconnection of the small intestine so we have several GI issues, cyclic vomiting syndrome and severe developmental/intellectual delays. Some of her issues can be connected to her partial trisomy 18, but not everything and because there isn't a lot of information on chromosome 14, it makes me wonder if her deletion is more of the cause. It sounds like we all have some in common!

Posted by sandradee
26 Aug 2010, 10:30 PM

Hi everyone, I'm so glad you all shared and so sorry I did not respond when you did. The email account I had this feed set up to send notifications to was hacked into so I no longer use it. I just came across this site again and wanted to reply. Hopefully you receive it. I completelly understand the frustration from the doctors. When Nick had his first grand mal they didn't believe me when I said it lasted 45 minutes. It had happened at night and never seeing one before I was not sure what to do. I took him to the doctor the next day and he looked at me like I was crazy. The next time it happened I called 911 and had him taken to emergency. This one lasted over 2 hours while they pumped him full of meds trying to stop it. From then on, if a seizure lasts longer than 5 minutes we go to the hospital as diastat has never worked. Nicholas' karyotype is 24.3-32.1 ~Sandra Thank you for the info on B-6. I have never heard that before but I will definately look into it. Nick can be so loving and affectionate but he has moments were he is just pure manic.

Posted by Rens
30 Sep 2009, 01:08 PM

Hi , My name is Ren and I have a nearly 6 year old daughter with a partial deletion of the 14th chromosome (14 q11.2q13). In reading each of your stories I have found some similarities and my heart goes out to all of you. Aliyah has lots of complex issues including agenesis of the corpus callossum, epilepsy (she requires resuscitation during seizures), bi-lateral vocal cord paralysis (which also causes her to stop breathing) and fluctuating muscle tone. Lately her behaviour is also an issue with her screaming for days on end. She also wakes several times a night (due both to uncontrolled movements and sleep apnoea). To fit her into a category- the doctors have labelled her as having Dyskinetic Cerebral Palsy (Dyskinesia is to do with uncontrolled movements and fluctuating muscle tone). She was in hospital for the first 3 months of her life (for her breathing) and was tube fed until she was 2 (she can now eat mash and drink from a bottle, but cannot do so independently). At 18 months she had her first seizure and required resuscitation. The doctors had never seen a seizure like it so it took them 7 months before they put her on anti-epileptics. In that time I was resuscitating her 1-18 times per day. Her first seizure med caused her to get pancreatitis and we were told she was going to die from multi organ failure. After 12 months they finally realized it was the medication and her meds were changed. Aliyah cannot speak, sit, crawl or walk. She was sitting and beginning to commando crawl when her seizures became worse and now she has lost that ability. Her muscle control is also worse- so even though she wants to sit her body doesnt allow it. Mentally- I am sure she understands and is close to her age, but physically she is like a 5-6 month old. We were told early on that Aliyah would never be mobile,see properly or feed herself- and although we still have hope (and are determined to give her every opportunity possible) we are only now coming to terms with the fact that this is probably true. Generally though, she is happy and smiley and loves contact and affection. Would love to hear more from all of you (and the exact locations of the deletions if you have that info).

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Son w/Chromosome 14q deltion

Created by sandradee | Last updated 30 Jan 2016, 06:11 PM


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