Doctor insights on:
Highly variable: This is fairly common and quite variable clinically depending on the extent of the deletion. DiGeorge and velocardialfacial syndrome patients may have deletions here. There's a good review at http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome ...Read more
About 1 in every 40, 000 babies is born with distal 18q-.
Treatment is to address the resultant medical problems. No two people with distal 18q- are exactly alike. One person may have different medical and developmental concerns from another person with distal 18q-. Also, remember that no one with distal 18q- will have all of the features.
Look at: http://www.Chromosome18.Org/the. ...Read more
I have azoospermia coupled with y deletion of the b region? Can i still have kids with such condition?
Prob not: If you have azoospermia, it's unlikely, but see a good geneticist and reproductive endocrinologist. ...Read more
Chromosome 2: p12-11.2 Deletion Syndrome can cause unusual facial features, developmental delays, small head circumference, & increased risk of kidney tumor. Seek a clinical evaluation by a geneticist who has reviewed baby's pre-, peri- & postnatal medical history,head & body growth charts, family history & results of Chromosomal Microarray on baby & parents to obtain a correct diagnosis & prognosis. ...Read more
My daughter has 22q11 deletion. One of the questions on here said that 38 was old for someone with di george. Is there an average life expectancy?
For genetic syndromes, things are changing rapidly. A child with a chromosomal disorder born 30 years ago would not have the life expectancy of a child born today with the same genetic disorder. There were many reasons children with 22q11.2 syndrome may have died in the past and most of these conditions are managed much better now and into the future. Life expectancy is constantly
improving. ...Read more
Depends: The effect of a chromosome deletion varies case by case & outcome varies. If a deleted segment is carried on another chromosome, the body has the information it needs miss filed but available for use & many people with balanced translocations live long prosperous lives without knowing.When the deletion sits alone, minor to major defects & disability are likely if the baby makes it thru pregnancy. ...Read more
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Good googling and uptodating ...Read more
Does 6q deletion always involve mental retardation? Or can some develope a normal cognitive ability?
Please provide more: specific information from the genetic lab's report of results of your child's Chromosomal Microarray. Exactly where is the deletion on the long arm of Chromosome 6? Is it proximal like Chr.6q11-16, distal like Chr. 6q26-27 or other? The size & location of the missing genetic material determine clinical & Neurodevelopmental findings, or phenotype, & help with prognosis. ...Read more
My son is slightly developmentally delayed. Found terminal deletion of 10q26.3 at a lower end scale of 2.2mb. What specifically does it affect?
Only a geneticist : Who examines your child & the cgh results can tell you. 10q terminal deletion syndrome presentation varies depending on its size & the functions of the deleted genes. See http://www.Rarechromo.Org/information/chromosome%2010/10q25%20and%2010q26%20deletions%20ftnw.Pdf. Anomalies of inner ears, eyes, heart, genitourinary tract + motor, communication, cognitive & behavioral problems can occur. ...Read more
My 5yo girl has been diagnosed with 1q21.1 duplication syndrome, 1q21.1 deletion syndrome and 7q11.22 duplication. Please can you tell me more :(?
Genetic disorders: Your daughter's cells lost tiny portions of some genes on her chromosomes and doubled up on other tiny portions. This happened around the time the egg that became her was fertilized. It was no one's fault. The effects vary, but can include a small head, speech and motor skill disabilities, ; learning disabilities, ; behavior problems, as well as seizures, cataracts, ; heart abnormalities. ...Read more
Hi, if azoospermia is coupled with y deletion of b and c region, does it imply that a man with this condition has absolutely no chance be a father?
How do you know?: If you've been evaluated to the point of having a karyotype or other genetic analysis done, you need to be asking questions of your geneticist, not on the internet. ...Read more
22q11 deletion: 22q deletion could be any deletion on chromosome #22, in the q arm of chromosome. Each chromosome has a short (p) and a long (q) arm. On both arms many areas that can be deleted. The most common is the 22q11 deletion syndrome which is variable ranging from perhaps mild learning difference to congenital heart defect, immunodeficiency, or hypocalcemia (low blood calcium). Many genes are involved. ...Read more
I am sorry:
Be strong as this is one of the worst things that a new parent especially would have to deal with. I don't know how severe it is based on your question. I am pasting a link below with general information.
http://www.ojrd.com/content/3/1/4. ...Read more
Variety of symptoms: Check out http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome for basics. 22q11.2 deletion can present differently even within in same family. "Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth (a cleft palate), and distinctive facial features." Also recurrent infections, autoimmune disorders, kidney, GI & skeletal ...Read more
I have a child with a chfromesome deletion 4p15.3 to be exact what does this mean? And.Is. It bad?
Loss of data: Our chromosomes(c)contain the guidelines that permit our body parts to develop and defines how we make the enzymes and proteins necessary for life. The c has a short arm, the p arm and a long arm, the q.A loss of material in the 4p15.3 means the material is gone from that site, so the information it contained is lost.A geneticist can provide you with more specific data. ...Read more
My sibling has VCFS. Is it possible for me to be a "carrier" of microdeletion 22q11 and pass it on to my child if i don't have the deletion/syndrome?
Microdeletion 22q11: Hello Rosette. Inheritance of Microdeletion 22q11 is autosomal dominant & just one copy of the gene causes the actual syndrome. This prevents you being a "carrier" (silently carrying the gene but not the syndrome). Frequently, it is not inherited and a new gene mutation. For some, Microdeletion 22q11 can be subtle & diagnosed in adulthood so I recommend Genetic counseling due to a sib w/VCFS. ...Read more
Can you be diganoised with 1p36 deletion syndrome as an adult or is this something diagonised in childhood ? I have most of the symptoms, never tested
Which form: 1p36 deletion is thought to occur in 1/5000 births, arises spontaneously in most cases and is expressed by a variety of anomalies in facial features, organs & developmental delay. It is diagnosable in infancy or childhood.The deletion is also found as a tumor marker in breast cancer. ...Read more
Successful treatment of a child with t/myeloid acute bilineal leukemia associated with tlx3/bcl11b fusion and 9q deletion?
Yes.: This is uncommon, but certainly treatable. The treatments are not straightforward, but intense treatment is typically required. There is a report recently of successful treatment with bone marrow transplant. ...Read more
My son had genetic testing when he was 2. I just read about 22q11.2 deletion syndrome. Would that be detected from standard genetic testing?
It would now, from a: Chromosomal Microarray, molecular genetic testing that is standard of practice for geneticists & developmental pediatricians for infants & children with developmental delays &/or Autistic Spectrum Disorder. A standard karyotype would not have identified a small sequence of deleted genes at 22q.11.2., only a FISH test of Chromosome 22 in the VCF region., done if there was clinical suspicion. ...Read more
my daughter is 16 and handicapped(low tone/ q43-q44 deletion). She has acid reflux at night but fine all day. What can I give her to help?
Can you tell us the : Chromosome on which your daughter has a mutation of the long arm, please? What has been done medically or surgically to treat the ge reflux? Has she had radiologic studies to rule out aspiration? Has a pediatric gastroenterologist performed an endoscopic procedure to look into her esophagus & stomach? Does she have a g-tube, or does she take food orally ? Can she chew & swallow well? Thank you. ...Read more
What kind of services are recommended for small children with 6q deletion and developmental delay?
From birth- 3 years,: a child with 6q deletion qualifies for your state's Early Intervention Program, usually through the health division. From 3-5 years, he qualifies for Early Childhood Special Education Services. Contact Child Find of your local school district. Apply to SSA for Social Security funds & for the Katie Becket Program at the same time. If your income is too high for SSI, you may get Katie Beckett funds ...Read more
Would a standard genetic test detect 22q11.2 deletion syndrome? My son had genetic testing done at 2 yo.
Standard genetic ?: There are thousands of genetic related tests I am aware of and each has its uses for specific cases. A simple chromosome study would not pick up this deletion.A high resolution study would likely find it in most specialty labs.Some also do a specific study using a genetic probe.This is a question best answered by the folks who did the study in question. ...Read more
My son has ch. 22q11 deletion with bipolar/schitzo afft. He needs a total eval again after 10 yrs. How do I get this done?
Referral: Talk with your son's primary care doc/pediatrician about a referral either to specialists in the community or hospital tied to a medical school (e.G, northwestern is there and many in chicago). Whomever wants the re-evaluation would best have a question to be answered by the evaluation (e.g., differential diagnosis or appropriate learning environment based on identified needs). Reach out today! ...Read more
My daughter is having bad pains in her legs, is falling, and clumbsyness also.She has a deletion disorder.What could it be ?
Best to consult : With her pediatrician. She needs a complete physical exam and details of her history . These may all be related to her diagnosis or could be something else . Neurologist may need to see her. Your physician will make that decision if she is not already seen by one. ...Read more
I am wondering if people living with c-18Q- chromosomal deletion syndrome have trouble fighting off infections or have low levels of iga.
18q- means a piece : of The long arm of the 18th chromosome is missing. There are hundreds of different genes located on the long arm, so there are potentially hundreds of different combinations of genes which might be missing and they all could cause different problems depending on the function of the genes missing. See http://ghr.nlm.nih.gov/chromosome/18%22 ...Read more
5 yo son has a deletion on the 19th chrom. He is already being treated for fh and adhd. Now they think he has cmt, anyone have experience with this?
Complicated question: Charcot marie tooth (cmt) is a group of disorders affecting the peripheral nerves. There are several types and several identified gene abnormalities. At least 34 genes have been identified as being associated with cmt. Some of those genes are on chromosome 19. Cmt is a different disease than adhd, but in any individual, there may be a link. Discuss with a geneticist or child neurologist. ...Read more
Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?
No: Usually for a 22q11.2 syndromes, a diagnostic technique called FISH is performed. There are numerous ways to detect genetic issues and the diagnostic modality will depend on what one is looking for. This may include simple karyotyoing to more sophisticated gene sequencing. A genetic counselor may be able to help you. ...Read more
Our infant who is being checked for 22q deletion had an echo which found papvc, but no asd was seen. He has a low murmur. Could it have been missed?
Possibly: The typical atrial septal defect that is associated with partial anomalous pulmonary venous connection is a sinus venosus asd. It is possible for a sinus venosus ASD to be missed if the sonographer did not record images in that area. On the other hand, it is possible to have papvc without an asd, although that is rare. ...Read more