Question 1

my daughter has deletion 22q chromosome syndrome.i took highlevels of dilantin while pregnant with her.is there a connection?

Accepted Answer

Dilantin: Yes, it is possible that dilatin caused the chromosomal defect in your child.

Question 2

what is deletion syndrome 22q.11?

Accepted Answer

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

Question 3

what is 18q deletion syndrome and how is it treated?

Accepted Answer

See below: 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.

Question 4

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 :(?

Accepted Answer

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.

Question 5

please tell me what does 22q11.2 deletion syndrome do to you?

Accepted Answer

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 &amp; skeletal

Question 6

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

Accepted Answer

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.

Question 7

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?

Accepted Answer

Yes: The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH.), See link for more details

Question 8

would a standard genetic test detect 22q11.2 deletion syndrome? my son had genetic testing done at 2 yo.

Accepted Answer

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.

Question 9

i am wondering if people living with c-18q-  chromosomal deletion syndrome have trouble fighting off infections or have low levels of iga.

Accepted Answer

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

Question 10

can karotyping detect 22q11.2 deletion syndrome? what is the standard pediatricians use if they are testing for genetic disorders?

Accepted Answer

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.

Get Virtual Care

For Businesses

About Us

HealthTap Online Primary Care Doctors Accepting New Patients

Doctor answers about:

Deletion 22q syndrome

A member asked:

My daughter has deletion 22q chromosome syndrome.i took highlevels of dilantin while pregnant with her.is there a connection?

A member asked:

What is deletion syndrome 22q.11?

A member asked:

What is 18q deletion syndrome and how is it treated?

A member asked:

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 :(?

A member asked:

Please tell me what does 22q11.2 deletion syndrome do to you?

A member asked:

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

A member asked:

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?

A member asked:

Would a standard genetic test detect 22q11.2 deletion syndrome? my son had genetic testing done at 2 yo.

A member asked:

I am wondering if people living with c-18q- chromosomal deletion syndrome have trouble fighting off infections or have low levels of iga.

A member asked:

Can karotyping detect 22q11.2 deletion syndrome? what is the standard pediatricians use if they are testing for genetic disorders?

HealthTap Online Primary Care Doctors Accepting New Patients

Telemedicine

Primary Care

Manage Your Conditions

Women's Health

Children's Health

Men's Health

Senior Health

Wellness, Prevention & Lifestyle

Sexual Health

Mental & Behavioral Health

Travel Medicine

Urgent Care

Didn't find what you're looking for?

More of what we treat

Allergies

Antibiotics

Asthma

High Blood Pressure

Prescriptions

Type 2 Diabetes

For Businesses

Company

Health Content

Join Us

Download HealthTap

Questions?