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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
Hello, I was wondering if you could answer a couple of questions for me about Marfan Syndrome. My 13 year old daughter is going to be tested for this in Nov. She has started to show symptoms of sore and stiff joints in her hands a...
  Posted
Avatar universal
I am a 43 white female. I tested as being homozygous for C282Y at age 37. My ferritin was 1700 and within three months of a diagnosis of HH, I was diagnosed with diabetes. The diabetes and iron are under control but I have just had a ...
  Posted
Avatar universal
Could an overload of iron for a person with alphatahlassemia cause severe pain in the kidney area?
  Posted
552463 tn?1220149456
It has been discovered that my haplotype seems to be the 11-3-52B I am still struggling with ongoing chronic lyme positive testing but the neuropathy and other issues are leaving me wondering if my genetic disposition is not helping the...
  Posted
Avatar universal
I have come across two girls which I suspect to be carriers of fragile X. One had speech cluttering with clear pronounciation and other had exam-anxiety/general anxiety along with some learning disabilities. I would rate their intelligen...
  Posted
Avatar universal
I am 27, 5'11, 130lbs, white male. I am tall, skinny, and cannot gain weight. My arms in particular are very skinny and gangly-looking. My arm span is two inches taller than my height, but the ratio is 1:03, short of the cutoff of 1:05 f...
  Posted
Avatar universal
Hi, our son just turned 2 months old. At his check up the doctor explained that he had an abnomality in his hemoglobin. He sent him for more blood work but it came back as 8% "unknown" beta. We are somewhat in a panic because we have no ...
  Posted
1047522 tn?1258149304
My sister found an article dated 4/08 during an online search for info on metaplastic carcinoma. This article seemed to indicate that TNBC (including metaplastic carcinoma) tend to be hereditary. I need to know if this information is c...
  Posted
887324 tn?1241733637
large 6p deletion at 25.1 and a large size duplication of chromosome 7q 21.13 What the heck does all this mean? Even the genetics counselr said they didnt know what it meant!! I am frustrated!! Also he has muscle tone issues in his...
  Posted
Avatar universal
I am 13 weeks pregnant and my baby has just been diagnosed with Turner's Syndrome. She had a thickened nuchal fold of 4.6 at 11 weeks. The fold went down to 1.9 mm at 12.5 weeks. I am wondering if this is any indicator as to whether s...
  Posted
564710 tn?1217723311
I'm writing a book and I'm in the process of thinking of a sequel for it. My only obstacle is I was planning on making the main character a hemophiliac. My question now is whether Hemophilia is an inheritence-only kind of disease or if ...
  Posted
Avatar universal
hi my grandmother on mom's side had ovarian cancer, my mom was diagnosed with ovarian cancer at 56, i was tested for brac and came back positive for bracII. i was told that at 40 i had to get rid of my ovaries, etc and my breast. what ...
  Posted
1061768 tn?1254671808
I was diagnosed with MTHFR, one copy of each C677T & A1298C. My folate level was 4.9, B12 299, K 3.4 & cholesterol & triglycerides were elevated. I just had repeat blood work done which included the rest of the B Vits & homocystine le...
  Posted
Avatar universal
Born at 32 weeks, wgt 3 lbs 15 oz, 18 " head circumference 15" Nicu stay for 3 weeks, uneventful, O2 by NC first 24 hours. Progressed from nippling to breast feeds at 3 weeks Delays noticed by 6 mos, no rolling, crawling, babbling, wak...
  Posted
Avatar universal
my partner is 23 weeks just found out her blood sceening came back with the edwards syndrome. she is going tommrow to get a level II ultra sound what are the signs to look for? what question should we ask at the time of the ultra soun...
  Posted
Avatar universal
I recently was informed by my obgyn that delievered our stillborn son on aug 30th 2009 that I am a positive carrier for Cystic Fibrosis. Is there anyway to find out if our stillborn son died from this and if this was the case what can ...
  Posted
1057089 tn?1254250127
My father has metastic brain tumor that spread to his lung and he had to have his lung removed. Am I at risk? Can I inherit cancer from him? I have the same symptoms as he does. I'm scared.
  Posted
Avatar universal
Good afternoon. My daughter is a two year old female. She has a variety of issues to include: small Ventricular Septal Defect, chronic Urticaria, dermatographism, chronic ear infections (now has tubes), asthma and allergies. She has ha...
  Posted
Avatar universal
My 11 year old son has myostatin-related muscle hypertrophy. I need diet tips to ensure he's getting enough fat & proteins. Linda
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Avatar universal
Can dyspraxia be genetic? My partner has a son from a previos relationship who is dyspraxic. I am keen to find out if it could be a fragile X c or genetic. Also can it be tested for in early pregnancy?
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