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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.

101 - 120 (of 519) questions
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Avatar_universal
I just read an article about Sickle Cell trait and the life threatening effects of athletic overexertion. (Washington Post, 8/4/2009). Are there similar concerns with the thalassemia trait?
JSiracuse | Last answer
Avatar_universal
I am a 61 year old female with breast and thyroid cancer. My older sister was diagnosed with breast cancer at the age of 61. We also have two younger sisters, and want to know if they should be genetically tested for the breast cancer ...
monica148 | Last answer
Avatar_universal
hi, I'm 18 years old and over the past 2 years ive taken a notice that many things on the right side of my body have grown larger than the left. its not so much as a question in perticular other than is this something that happens or is ...
JohnC308 | Last answer
Avatar_universal
My daughter has been undergoing many tests to determine the causes of her problems. Here is her history. Born on 30 August at 35 weeks, 4lb 12.5 oz 16.5in Probable IUGR (no confirmation as she was born before 2nd growth scan) Healt...
Phaedra05 | Last answer
Avatar_universal
I recently had a heart attack. A few years ago my brother had a DVT and didn't respond to coumaden. During my heart attack I didn't respond to Heparin. My BP was 189/119 and my heart rate was 40 bpm. After twelve hours they did a car...
Cardinarla1 | Last answer
Avatar_universal
I am 51 and earlier this year was hospitalized for 5 emboli. As far as I know there is no family history of such occurances. DNA testing indicated I was heterozygous for the C677T mutation. According to my PCP I will be going through ...
nanoffour | Last answer
Avatar_universal
I need to be tested for a pre-existing condition in my sister where she had a missing platelet marker on one of her genes. This then meant that her children were born with NAIT. I need to know if I am that same missing platelet marker be...
kagteacher | Last answer
1006003_tn?1256231015
I'm a 44-year-old woman in good general health, and I've wondered for years if Marfan syndrome ran in my family. My dad's side of the family is tall and slim. Both my dad and his maternal uncle died of aortic aneurysms, and my dad's olde...
TreeFrog7 | Last answer
Avatar_universal
Both my husband and I are fraternal twins. I also have twins on BOTH sides of my family. Is there anyway to figure out the probability of myself having twins?
lerchy13 | Last answer
Avatar_universal
Can DeGeorge Sequince " Chromosome 22 Defficiancy" cause Night Terrers and if it does what can be done to ease the nightmares for younge children of 5 and under?
Mylisa84 | Last answer
Avatar_universal
i was tested for my son on NF useing the gene test. i was told by the doc that i was in a 5% group where the neurofibroma gene is not showing it self and this was the second time i had it done the first time it showed i had type 1. i wa...
maddie386 | Last answer
Avatar_universal
Hello, after 5 miscarriages, we got to know that my husband has a reciprocal translocation between chromosome 11 and 22. i underwent one pgd session that resulted in a neutral reading (no results were given on 8 embryos). now we have giv...
ekssekias | Last answer
Avatar_universal
My daughter recently tested positive for one copy of the A1298C mutation. She has also been diagnosed PDD NOS. Should we consult with a genetics counselor or specialist? My daughter is adopted and her birth parents both have mental he...
greenesda | Last answer
Avatar_universal
I had a DVT in 2006 at the age of 24. After genetic testing I was informed that I was Compound Heterozygous MTHFR C677T/A1298C. Also positive heterozygous for the G20210A mutation in the Prothrombin gene. Initially i was perscribed tempo...
scunha207 | Last answer
Avatar_universal
I'm 25 years old and I have a large cafe au lait spot on my left upper thigh that practically covers the skin from my knee to my upper buttock. This mark my mother claims became prominent when I was 4 or 5 as she failed to notice it bef...
jonikins | Last answer
Avatar_universal
Hello: I would like to know if skin elasticity is the determining factor in deciding if a patient has EDS. I have many of the symptoms but my skin is only mildly elastic and then only in a few spots. I have many of the other symptoms ...
Dennae | Last answer
Avatar_universal
i am 22 and i have three kids me and my partner want twins i am a faternal twin and his aunt had a set of identical twins what are our chances of concieving twins for next month......... sarah
whyt_coco_2008 | Last answer
769317_tn?1235024336
Persistently looking for the place where the forum can be to write about something that interested me, whether anybody has any kind of response. We are desperate! We have three children, boys of 16 and 5 years and the little girl, who is...
SelmaP | Last answer
Avatar_universal
We have the BRCA-1 mutation on my dad's side of the family. Three geneticists claim that the odds of inheriting the mutation are 50/50 with no exception. 6 out of 6 of his kids have the mutation. While statistics can jive with these resu...
lonebrother | Last answer
726204_tn?1285879778
I have three daughters aged 1,2 and 7. They all have hypermobile joints (fingers, wrists, elbows, knees, ankles) the youngest seems to have the most lax joints, when washing her hands you can feel the movement of joints in her wrists an...
evo123 | Last answer
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