Answers in 'Clinical genetics'
suffering primary amnorrhea and having no sec sexual character there are no periods yet.uterus is smal rudimentary age is 18 chromsomes are 48XX.
5 yr old pitting of all 20 nails. Normal labs, no signs of hairloss or skin problems, great vitamin levels. What do we try now?
5 years ago, had indirect bilirubin of 1.4, direct 0.3. When I wasn't fasting it was normal. Abdominal ultrasound normal. All other enzymes normal. Also had normal rbc, hemoglobin, ldh and haptoglobin. Gilbert's?
Are there any rare genetic conditions that could occur if third cousins have children? Do any specifically effect the height of those children?
A patient has come to me with a concern about numbness in right leg and family hisory of MS(Mother, deceased age 57 and Grandmother, deceased age 63) ?
Both my husband and I have been tested repeatedly for the sickle cell trait we are both negative but our son has the trait?? How is this possible?
Bladder cancer not hereditary? Can it be checked by simple blood test? Urinalysis? or by scope from urologist only? Best regards
Besides heredity, does eating salty & junk foods causes hair to thin?
Blood work done 5 years ago, my reticulyte count was at 0.6 on a scale of 0.5-1.5. Everything else was normal including LDH, rbc, hemoglobin and haptoglobin. I have been told i have gilberts bc my indirect bilirubin is elevated when fasting. Normal?
Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.
Could my thick blood be something hereditary if 3 of my close family members have died before the age of 65 from strokes and angina?
Can I get a Tattoo if I have Polycystic kidney disease?
Can GH levels be high without the presence of tumours or acromegaly?
Can olanzapine exposure permanently alter the epigenetic profile of an individual and thus contribute to impaired motivation?
CBCs past 3 yrs show steady increase of iron, serum. Now outside normal range. Abdominal discomfort left side under bottom ribs. Hemochromatosis? Or?
Dad wants me to do a 24 hour test that monitors heart bc of a hereditary artery condition in his family but dont know what it's called, what could be?
Family history heart disease,had heart echo I have diastolic dysfunction no drugs no alcohol or smoking what can I do to help it. tyvm?
Had 3 lab tests for alpha 1 antitrypsin serum level,first result was 1.35g::Lit, next 1.29g::Lit and last test 1.23g::Lit,do i need A1AT phenotype test?
Hi my name is laila. I am from Melbourne Australia. please could i know roughly as to how much knock knee surgery would cost?
How many people have pku in the world?
Hi doctor a few days back I study that a one patient in Israel have suffer from xxy syndrome have normal and function testis is it possible?
We are having miscarriage issues since 3 years go. We had 4 miscarriage and now having 5th pregnancy, at 8th week we did not observe heart beat, ?
How much of a 5000mcg Methyl B12 sublingual would actually be absorbed? I'm vegan & I just found out I'm 8 weeks pregnant and I was taking 1 every 2 wks. Concerned that levels would have spiked and harmed my baby. esp re: new links to autism
How far back into a pregnancy cord blood tests will show meth use? We are foster parents waiting for results on the baby and mom of our foster daughte
Hi, my 9 year old son is poorly every week. His CPR IS 47 & CBC normal. He gets constant viruses but nobody else gets ill! What could cause this?
How many whole eggs and egg whites can one eat in summer in a day? I am a hard gymmer age-20
How someone have twin childs its just luck or something else?
I did an early detection test for AFP, since my grandfather-breast and father-liver have cancer. Do I need to investigate further. If yes, what tests?
I'm FTM transgender. I want to have metoidioplasty in the future, but I have Ehlers-Danlos syndrome type 3. Could I still have the metoidioplasty?
I have hereditary depression. Prozac doesn't work; and Lexapro and Effexor had terrible side affects. Counselling will not work. What are my options?
I have a family history of skin cancer. Is it safe for me to get ozone acne therapy when I get facials? I had it done recently and it worked wonders. However, I read afterwards that ozone is a toxic substance...?
If my alpha -1 antitrypsin serum is 1.23 g::Lit, do i need antitrypsin phenotype test?
I am white but my pennis is black?
I have very thick mucus from my lungs, nose, and even vagina (>1yr) Is it possible to have cystic fibrosis and not be diagnosed until adulthood?
Is Veritas BRCA testing legitimate?
I have a very faint gray 1 mm stripe running vertically on my thumbnail. My parents have one too (genetical?), is it melanoma?
Is down syndrome sex-linked or autosomal?
Is there an underlying cause to numerous meniscus tears over time? I'm a healthy, active 32 year old female who has had multiple tears over 14 years
I AM AB-. My father is o positive, mom ?, 6 siblings and look nothing like them. Both parents 5'1 & 5'2 height, I am 5'11 female and taller than all
I have Nf1 haven't seen a nueroligist for 10. Yrs. My speach gotten worst hearing tumors on my spine upper back shoulder blade on my neck on my head?
I got a positive test for down syndrome I am 21 weeks pregnant ?
I am 35 y, preparing to get pregnant soon. I've been smoking for many years, one pack::Day. How long should I wait to conceive after I quit smoking.
I am 23 weeks and 4 days pregnant with a girl.My cervix is 2,6 cm.Should I worry and start taking progesterone related drugs?If yes which one is best?
I can't find anyone in Northern Calif that will accept my blood since I have hemochromotosis. Do you know of any that will in N Calif? Thanks!
I would like to know more information about this birth defect condition I have that is called hemihyperplasia. I have my right limbs much bigger than?
If I was exposed to toxin chemicals in the past, but have stopped being exposed for many years, will the new sperms have the genetic defect in future?
If I was complaining from hereditary hair loss and started to use topical minoxidil how can I stop it without losing my hair?
I have been worrying if the food I eat may cause spermatogonial stem cell to have gene mutation defect, affecting my future sperm even aftermany years?
If a guy was exposed to some chemicals many years before conceiving, is it possible in the future, he may have kids with new genetic defects?
I have dark circles (hereditary?) and thin skin on face and around eyes. What can I do to help this and get rid of the dark circles without surgeries?
Is there such a thing as far sighted contact lenses?
I saw on ancestry.com death records for old relatives dating back to 1800.2 of them had cancer! Now I'm worried my family has a cancer syndrome- although most including my direct relatives lived well into their 80's but don't know how they died.
I have an arteriovenous malformation located deep to the right vestus mediales muscle in my right leg i went to several doctors but no one can explain to me why i'm having pain?
If my great aunt had colon cancer at 66, lived to 95 and my grandmother had pancreatic cancer at 72, does this sound like Lynch syndrome?
Indirect bilirubin 1.2-1.6 and direct 0.2-0.4 when fasting, when I eat, it goes down to normal being around 1.0 and 0.1 respectively. Dr said Gilbert?
Is bilateral fibular hemimelia also autosomal dominant?
Know it doesn't happen much but are there any rare or genetic diseases that would add several inches of height to an adult over 35-besides acromegaly?
My flat head problem is not genetic...it is due to an accident when i was in my mama's belly. And now i am 17. Is there any solution for my problem???
My pediatrician ruled out that my Lo has a breastfeed jaundiced, but her newborn screening shows that she's g6pd deficient as well,. Should we treat h?
My father died of HCM, my brother has recently been diagnosed of HCM with no gene identified. I have had regular -ve screening am I safe to run?
My son has g6pd what vaccines should he not get. I've looked on every website and not getting real amswers?
My Mother suffer from ADPKD ,and her spine x-ray showed a shadow beside her spine what could this be?
My boyfriend has strabismus but it only goes in part of the time and mostly when he's tired. what is the percentage that our children will have this.
My son has hereditary spherocytosis. Recently he was dx with an ear infx. Taking augmentin x 8d. He has a few petechiae behind infected ear. Worry?
My son is 6 and has hereditary spherocytosis. I am terrified he is going to get parvovirus and I won't know since presentation is mild. Help!
My son is 6 and just dx w hereditary spherocytosis. If he gets parovirus will he definitely go into aplastic crisis? How will I know it's parvovirus??
My 6 yo son was dx with hereditary spherocytosis. I am SO worried about him getting parvovirus and going into Aplastic crisis. What do I watch for??
My son was just dx with hereditary spherocytosis. I am SO worried about him getting parvovirus and going into Aplastic crisis. What do I watch for??
Need a doctor to help with penicillin pirscription. Have too thin infection. Face starting to swell. Live far. And I have severe hemophila type A?
Odd Palpitation 3-10fast beats in person like myself, normal LV function,no history loss of consciousness no family history of NSVT would be innocent?
Prednisone x 2 yrs and Arava x 4 mos for suspected PMR. Now with hypogammaglobulinemia and albuminuria. Could medicines be the cause?
TC: 117, HDL: 31, LDL: 86
Family history of heart problems - only in women. My grandma, mom, and sister do, I don't. Do I need to worry about my HDL?
Why has taking daily fish oil not lowered hereditary high cholesterol? Is it because the high cholesterol is hereditary?
What kind of food can I eat if I have Polycystic kidney disease and Cyst on the Pancrea ? And I previously had a Pancreatitis with a lipase of 16,000.
What does it MEAN by " Some chemical are not originally mutagenic but only through cellular process"?
What is the chance of mutant sperm being able to fertilize egg, where the baby born will have genetic defect::Disease?
When the spermatogonial stem cell get mutated by chemicals, if the mutated sperm fertilize the egg, will the child have de novo genetic defect?
What's the likelihood of getting prolonged qt or torsade de pointes from taking Biaxin. I don't have any heart problems. ?
What are the most reliable skin biopsy sites for Classical Ehlers-Danlos? My skin has been badly damaged by lifelong bouts of chronic eczema and a few years of pottery class---- I need to figure out what my 'best bet' biopsy site would be.
Why do i have weak erections?
What is the definition or description of: Angelman syndrome?
What causes bony hands? I'm only 34 and my hands are super bony.
When chemical (not sure what) induce mutation in spermatogonial stem cell, what's the increase in risk of having de novo genetic defect child?
Why do i experience heart palpations while laying down at night? I have anxiety at times. I am 17 and male. No family history of heart disease.
Which are the chances for my baby to develop my allergies? I'm allergic to several meds such as NSAIDs, morphine, aspirin, dust and some trees.
What causes swollen feet n purple on bottom for a 3 week old with an arch in mouth n possible abnormal thyroid ?
What is the definition or description of: Sickle cell carrier?
What are chances of having photosensitive epilepsy if no family history of epilepsy? I'm 16 and play video games for hours at a time, what's the risk?
What is the definition or description of: Prominent nose?
What is the definition or description of: Uterine abnormalities?
What can be done for someone who has a genetic insensitivity to local anesthesia but needs dental work done?
What is the definition or description of: Mucolipidoses?
What would be the typical procedure for a c5-6 congenital fusion with compressed c6exit route cause sever pain and tingling.
What is the definition or description of: Cystic hygroma?
What is the definition or description of: Severe combined immunodeficiency?
What is the definition or description of: Midfacial hypoplasia?
What is the definition or description of: Fragile X syndrome?
What is the definition or description of: Ehlers Danlos syndrome?
Will a child who has mild hereditary spherocytosis automatically go into aplastic Anemia crisis if he gets parvovirus? Will some kids avoid it?
What percentage of lynch syndrome patients develop colon polyps by age 60? Not cancer but just polyps