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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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237300 tn?1231458318
In June I had a miscarriage and because I insisted on it my doctor gave me tons of blood tests. He found out that I am compound heterozygous MTHFR. He put me on Foltx (I'm taking the generic form Folbic). He also told me to take a bab...
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Avatar universal
I am a male and yesterday I learned that I have a balanced translocation of chromosomes 14 & 17. My wife and I have suffered 5 miscarriages. Our first baby miscarried at 5 months due to an incompetant cervix, the second miscarried at 3 m...
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Avatar universal
Hello, My mother was just recently dx with A1298c Mutation. Please explain this to me? what causes it? Is it genetic? I have 2 boys myself and can I or my boys get it. She has had 2 strokes already and that is how they found it through...
  Posted
Avatar universal
I'm a 41 y.o. male, writing from Athens, Greece. Since my childhood, I know that I have a hereditary disorder called "thalassemia minor". I would like to know if this has anything to do with mood and behavior disorders, such as depressio...
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887324 tn?1241733637
What does this mean? Our boy was just "diagnosed" with this Duplication on chromosome 7q21.13 large size 1.68 to 1.73 mb Deletion of 6p25.1 large size 208.45 to 240.91 kb He is only 26 months old......I have searched and searche...
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My Grandson has no enamel on his baby teeth, and they suspect these might be his permanent teeth. He will be 4 March 6 and is a wonderful child. He talks and communicates, he is very athletic and also extremely caring. My son and daug...
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How common is it to have posterior helical ear pits? My daughter has them bilateral, she is also over 99% for height(parents 5'7"& 5'11), and was hypoglycemic at birth. Her pediatrician assures me that they are very common. I understa...
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Avatar universal
can the genetic factors MTHFRC677T or Factor V Leiden keep you from GETTING pregnant? not just having miscarriages, and can it lead to birth defects in a child if success in birth?
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Avatar universal
I don't want to sound horribly unsympathetic, but I recently learned that my girlfriend, who I care for deeply, has 2 uterus and 2 cervix. I would compare this to me having 2 penis's and that to me would be really strange, and I imagine...
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Avatar universal
I was wondering my possibility in having twins, on my husband's mother's side he has a grandmother who is a fraternal twin. On my side of the family, my father has a bother and sister who are fraternal twins and I know I have a pair of t...
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In the absence of a family history for genetic disease, what is the risk of genetic disorder/birth defect in first cousins of Iranian descent? Thank you.
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Avatar universal
i was just wondering if i have kids with my second cousin, what are the chances of there being complications and will the unborn child be normal?? please reply
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1035252 tn?1427231433
Hi...I was hoping you could help me out with something! A dear friend of mine just found out that her 2-year-old daughter has a rare chromosomal deletion, apparently she is missing the short arm of chromosome 16? She's got a severe prote...
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Avatar universal
I am wondering how good my chances of having twins are. My mom is an identical twin and she has identical twin uncles. My dad is a fraternal twin and has another set of fraternal twin brother and sisters. My husband has twins on his s...
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Avatar universal
Iam 23 year old and recently I lost male baby.He was diagnosed with spina bida with arnold chairi 2 malformation during ninth month pregnancy scan.We went through genetic counselling.My husband is having A C at 1298 and C C at 677 posit...
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1033165 tn?1309439016
I got my blood work back. I was just diagnosed with having Leir Weill Dyschondrosteosis. I have been having alot of hip pain and daily feeling of giving out while walking, also elbow pain, Can this be from my disorder? Also, what about ...
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Avatar universal
I'm 41 w/ hx of breast cx (dx 39 yrs, IDC & DCIS, stage I, chemo no rads). My original CT scan after dx (9/07) showed no nodules on thyroid or in lungs. My last 3 scans showed lung nodule but it appears to be stable. Prior to starting ch...
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My Mother in law, my husband(her son) and several of her family has this genetic disease. Her sister di researse back in 92-93. We are looking for and update as my Mother in law has been living with us and was just confirmed she has de...
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Avatar universal
Dear Doctor, My Boyfriends' father is 59 years and he suffers from diabetes, he takes insuline injections. He began suffering from diabetes 10 years ago, first taking pills and now insuline injections. I am worried about this disease ...
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