12q Chromosome Deletion
What is 12q Chromosome Deletion?
Each human cell stores its genetic material (DNA) in chromosomes. All normal human cells have 23 pairs of chromosomes with the exception of sperm or egg cells that have 23 single chromosomes. All chromosomes have a long arm and a short arm, designated as q and p respectively. Chromosome 12q deletion describes a group of disorders where a segment of the long arm of chromosome 12 is missing. Different symptoms and have been reported depending on the specific region of 12q that is deleted and the genes involved. 12q deletions are very rare but the cases tend to have some features in common such as developmental delay, intellectual disability, and distinctive facial features.
Each human cell stores its genetic material (DNA) in chromosomes. All normal human cells have 23 pairs of chromosomes with the exception of sperm or egg cells that have 23 single chromosomes. All chromosomes have a long arm and a short arm, designated as q and p respectively. Chromosome 12q deletion describes a group of disorders where a segment of the long arm of chromosome 12 is missing. Different symptoms and have been reported depending on the specific region of 12q that is deleted and the genes involved. 12q deletions are very rare but the cases tend to have some features in common such as developmental delay, intellectual disability, and distinctive facial features.
The exact prevalence of 12q chromosome deletions is unknown. Overall, less than 20 cases have been reported.
12q chromosome deletion occurs when a region of chromosome 12 is missing. It usually occurs as de novo, meaning that the affected individuals parents do not carry this deletion but individuals can pass it on to their children as well.
Symptoms vary depending on the deleted region of the chromosome. There might be intra-uterine growth restriction before birth. Symptoms can include characteristic facial features such as cleft lip and cleft palate, small head, spot baldness, widely-spaced eyes, crossed eyes, flat nasal bridge, low-set ears, finger or toe abnormalities such as short fingers and side-way bending of the fingers (clinodactyly, cardiac and renal malformations, and developmental delay.
Diagnosis is based on clinical signs and symptoms and genetic testing.
Genetic testing such as karyotyping can confirm 12q chromosome deletion.
Treatment varies in individuals based on the specific signs and symptoms present and the particular needs of each individual.
Genetic and Rare Diseases Information Center (GARD). Chromosome 12q deletion. 2019. Available from https://rarediseases.info.nih.gov/diseases/10847/chromosome-12q-deletion
Klein O, Cotter P, Schmidt A, Bick D, Tidyman W, Albertson D, et al. Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. American Journal of Medical Genetics. 2005;138(4):349-54. Available from https://www.ncbi.nlm.nih.gov/pubmed/16200635
Murty V, Houldsworth J, Baldwin S, Reuter V, Hunziker W, Besmer P, et al. Allelic deletions in the long arm of chromosome 12 identify sites of candidate tumor suppressor genes in male germ cell tumors. Proceedings of the National Academy of Sciences of the United States of America. 1992; 89(22): 11006-11010. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC50472/
Am J Med Genet A. 2007 Nov 15;143A(22):2700-5.
Niyazov D, Nawaz Z, Justice A, Toriello H, Martin C, Adam M. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. American Journal of Medical Genetics. 2007; 143(22): 2700-2705. Available from https://www.ncbi.nlm.nih.gov/pubmed/17937441
Al-Zahrani J, Al-Dosari N, Abudheim N, Alshidi T, Colak D, Al-Habitet O, et al. Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects. Molecular Cytogenetics. 2011;4:9. doi:10.1186/1755-8166-4-9
Watson M, McAllister-Barton L, Mahoney M, Breg R. Deletion (12)(q15q21.2). Journal of Medical Genetics. 1989;26(5):343-4. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015605
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Last updated 31 Mar 2013, 07:54 PM
31 Mar 2013, 07:54 PM
Thanks Elizabeth and Rachel for your feed back it is much appreciated. Kathleen
31 Mar 2013, 02:15 PM
Hello, our son is 2 and we haven't had any seizures, but honestly, I wouldn't new surprised if he ever does get them. His deletion is 12q12, and one of the genes has to do with epilepsy. However, since it is deleted, I'm not sure how that affects him. Not much help, but keep the questions coming if you have any. Blessings, Rachel.
31 Mar 2013, 10:09 AM
Hi! My son has not had that problem so far, but i have a facebook group called "chromosome 12q deletion" my name is Elizabeth Anderson from california, united states. In our group we have about 30families who have children with 12q deletions and i know for sure one of them have a child whom is about that same age and she has seizures . I would love for you to join our group! Feel free to email me at wazzuplizard@yahoo.com anytime if you have questions. My son jason is 2 1/2 and has chromosome 12q deletion , 12q21.2q21.31
Last updated 31 Mar 2013, 10:30 AM
31 Mar 2013, 10:30 AM
@claireatsmiles, tinx36, and monique- we have a facebook group called "Chromosome 12q Deletion" and have about 30families with kids who have this disorder i would love to have you all join! Or look me up Elizabeth Anderson, we are in california, united states my 2 1/2 yr old jason has 12q21.2q21.31 and Kirrilly is in our group as well as a few other ladies from this site. Email me anytime as well @ wazzuplizard@yahoo.com hope to talk to you all soon!!!
9 Feb 2013, 09:41 AM
Hi, Congratulations your achievements. Its a long and difficult road. Our facebook group is growing and while I wish none of our kids had these issues the support has been amazing. Most kids have muscle tone issues but do eventually get there so have hope. My almost 3 year old started walking at 28 months and is now running and climbing on everything. I do have to admit while its tough I really appreciate every milestone. I also have a 6 month old who appears to have some delays too so may be facing the same long road ahead. My advice is to fight for therapy as it really does help, however, know it is a though road and realise that its ok if you can't do therapy every day. Love your child and encourage every little step. If you are faced with negativity be strong and stand for what you believe in. Also feel free to email me kdega1@yahoo.com.au
4 Feb 2013, 10:41 PM
Hello evryone, well mason 3 on 22/3 his has his third new pair of piedro boots today and walks a bit wobbly holding hand or holding onto furniture. He tends to drag right foot a little. Since sept he has started the orchard school in nursery mornings its a sen school. Fantastic!!!!! Although very tired when he comes home. Only on bottles frutini still not interested in food but gaining weight. He weighs 12kg but still a little tot. As for speech can say mommommom, dadadadad, aide ( sadie lol) so getting there. At school they say he does walk beta with frame but like evrything they are still waiting for his, in the process of chasing up. Touch wood after the horrible scare xmas 2011 he hasnt been in hospital poorly. As for facebook still not on but look for paul and melodie williams or melodie and paul williams cant remember which way. Hope evryone else is doin ok tke care love mel x
Last updated 20 Mar 2013, 02:28 PM
20 Mar 2013, 02:28 PM
Hi everyone! Its been awhile since I've been on here. I from the United States in California, my 2 1/2 yr old Jason has Chromosome 12q deletion (12q21.2q21.31) .For those of you that don't know, I have a Facebook group called Chromosome 12q Deletion , if you would like to join and meet the families there from all over the world. We have over 30children with this disorder and we have been learning more about chromosome 12q disorders than we have from our doctors. Please feel free to contact me on Facebook so you can be added to the group. My name is Elizabeth Anderson, Facebook group - Chromosome 12q Deletion, or email me at wazzuplizard@yahoo.com
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