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Genetic Disorders Forum

Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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Avatar_universal
My daughter was a full term baby that had an IVH in uetro. She has left hemiparsis and hydrocephalus from the event. When she was born (in 2002) all of her blood work came back normal. We also revisited hematology when she was two (in...
wjs9393 | Last answer
Avatar_universal
My basic question is: Could chronic thigh pain be attributed somehow to having the C677T mutation of the MTHFR gene? (Could there be multiple small arterial occlusions that can not be seen on a Doppler sonogram or in an MRI?) I hav...
Phyllis66 | Posted
849095_tn?1242685048
My son was born on July 21, 2008 with a chromosome deletion 10p 14,15. I was told of the deletion when I was pregnant through an amniosentisis. I spoke with the pediatrician before my child was born. I told him of the risks that my OBGY...
PrincessaRubs | Last answer
Avatar_universal
2 DAYS AGO I WAS JUST INFORMD MY SON'S BIRTH FATHER HAS MS.....WHERE DOES THAT LEAVE MY 7 YEARS OLD SON.....DO I GET HIM CHECK???? IM WORRYD SICK!!!! WHAT R HIS RISK???
worrywort07 | Last answer
Avatar_universal
I am 29 years old. Since I was about 15 I have had these sometimes "uncontrollable" head twitches. I Also have very bad eye sight witch is getting progressivley worse. My Grandmother on my fathers side has died from Huntingtons Chorea an...
thompson9431 | Last answer
Avatar_universal
hi there i was diagnosed with aip 8 years ago when pregnant and i have recently had tests carried out under a specialist who tells me they cant find anything in the urine tests !!! i have had numerous attacks, my gp was very unprofession...
shelly439 | Last answer
Avatar_universal
Is there any research that links lupus to being an HLA B27?
dorthwoman | Last answer
Avatar_universal
Hello DR, Please advise me. My girl friend is daughter of my mother's own younger brother. Our marriage will get birth defect for our child? please help me... Thanks...
vignsh | Last answer
Avatar_universal
I want to understand the report on "Prenatal diagnosis of Thalassemia using CVS" done at a reputed lab in India and understand how this test is done, and the result reported. I have a few questions. Appreciate if you can clarify them...
confuzedpartner | Posted
648243_tn?1246392518
I just tested positive for two copies (homozygous) for the A1298C mutation, without the C677T mutation. I have am heterozygote positive for Factor V Leiden. I am 57 years old and I have NOT had any miscarriages (I had 2 live births), ...
Pegfor | Last answer
Avatar_universal
If someone's father did a copious amount of LSD, could this have an effect on their future children e.g. - brain chemistry, neurological, perception, etc.? Thanks for reading this, wow what an awesome site this is!!
Bob534 | Last answer
Avatar_universal
I am a 35yr old patient with Hereditary Hemochroamtosis which was diagnosed in 2003. I have undergone the treatment course and am under maintenance although a bit overdue at this time. My family history basically consists of my father ...
Medfordite | Last answer
Avatar_universal
Hello, My wife is 23 wks pregnant with a girl. A number of days ago we got the results of the amnio fluid test which have shown that the fetus has turner mosaic 45x0/46xx with 30% of abnormal cells. We insisted on doing the FISH test t...
Alexts | Last answer
1043425_tn?1253259332
I am cerebellar ataxia type II patıent.ı have taken a stem cell therapy 1 year ago.but the improvements on my body are too slow and ıt is not enough.ı wonder about ıf there ıs any gene treatment about sca 2 . can you ınform me about all ...
gulsah | Last answer
Avatar_universal
Hi Joanna, You answered a question I had a while back about my baby who was still born. He had a diaphragmatic hernia with no other abnormalities seen on ultrasound. Well after he was born they said there must have been other abnorma...
john911 | Last answer
1033165_tn?1309439016
I was wonder if I should be tested for leir weill syndrome, or anything else reccomended. I have madelungs deformity in both wrist including into the elbows. I am short statue. My fathers side are all 5ft and under. I stand about 4'11 m...
las03 | Last answer
Avatar_universal
my daughter is dating her cousin, My mother and his grandfather had the same dad but not the same mother, will this create problems? please let me know what you think thanks
bc3fuller | Posted
Avatar_universal
My daught. just turned a year old, she is a pure joy. However, she is a big mystery to me and her father, as well as to all of doctors. I knew somthing was wrong immediatly after she was born. I was assured she was fine. She was extremly...
ash0301 | Last answer
Avatar_universal
I have twin boys who are now 7 years old. When I gave birth to my twins they identified that they may suffer from some kind of syndrome. After several months and lots of tests it is indentified that they have a unbalanced translocation ...
happyplanner | Last answer
Avatar_universal
my son was born september 14th 2007 almost 2 i took him to childrens in cincinnati,ohio they took blood and she called back and said the the blood test came back abnormal and said something about the 10th chromosone and said that me...
jennifer2482 | Last answer
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