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Genetics Community

This patient support community is for discussions relating to a person’s predisposition to a variety of medical conditions such as Alzheimer’s, blood-clotting disorders, breast cancer, cystic fibrosis, diabetes, Marfan syndrome, and Ehlers-Danlos Syndrome.

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Avatar universal
Hello. I am brand new to this group. My daughter was just diagnosed with Goldberg Shprintzen Megacolon Syndrome. We have been searching for over 20 years! We were told there are only 10 documented cases IN THE WORLD!! We are trying to co...
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Avatar universal
hows about this for genetics....i have a daughter who is one of 14 in the world..she was one of 15 but my oldest daughter passed away...throught complications of this syndrome.....talk about genetics...
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Avatar universal
Hello, My daughter was just diagnosed today with 10q deletion syndrome. She has low muscle town (hypotonia), and is currently trached for not being able to breathe on her own. She was a preemie - born at 32 weeks. She's currently 7 we...
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Avatar universal
Has anyone who is a carrier of mgs along with their partner gone on to conceive a healthy child?
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Avatar universal
38 year old woman has mental health issues due to an antie sickness drug in the 1970's she has the mental age of a 14 year old suffers with clammy hands and cold hands has constant bad oder even after a shower or bath has very slow pain...
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family doctor doing TB evaluation. What do you think for Prader Willi Syndrome, Being 55 male , I remember some of episodes during childhood- Late Speech -like even at 4 years I was not speaking. Apendicites surgery was done at 28 yea...
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Avatar universal
Hi all, I received the following SNP results back regarding the gene ATP7B: rs1061472(A;G) rs732774(A;G) Here is an excerpt from the abstract linked below: "...in the Wilson's disease (WD) ATP7B gene. We studied single nucleotide po...
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Avatar universal
At 18 weeks pregnant my maternal fetal medicine doctor told me he was pretty positive I was having a girl!!! And At 22 weeks he confirmed it.....Well now at 28 weeks he says the clitoris looks slightly enlarged and isnt too confident sa...
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Avatar universal
Sorry I post rhis among the people asking about medical problems but I didn't find any place better than here... My question is, how can I become a genetic scientist??? I'm at the second year of highschool, and I'm clever enough to stu...
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Avatar universal
I am 43 now, just had a normal pregnancy at age 41 and am pregnant again. Are my odds greater of having complications or genetic disorders due to my age?
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4861077 tn?1360159739
hi my son has autism and pica, I have just been told he has a duplicate chromosome 3q29 can any tell me anything about this as I here it is quite rare
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Avatar universal
I am currently almost 16 weeks pregnant with my first child. I had an emergency sonogram done at 14 weeks 1 day because I was having a lot of pain and they were worried about my reproductive organs. After about 10 minutes in with the s...
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Avatar universal
Can Dwarfism run in a family? I have early childhood and im doing my project on dwarfism and i would like to know if it does or doesn't run in a family?
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Avatar universal
I had a positive test result of MTHFR:p.Ala222Val (A222V) heterozygote and MTHFR:p.Glu429Ala (E429A) heterozygote. I have had 2 miscarriages over the past 2 years using no medication. Pregnancies only last 6 weeks. I seem to have trouble...
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Avatar universal
Thanks for your forum. I have an 8 years old daughter which was diagnosed with ADD. A recent MRI findings were the following: "Left periventricular white matter ill-defined T2 hypointense area at the level of the centrum semiovale and co...
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Avatar universal
is there any translocation of chr 14:17 whit lake of chr y in a male? in 50% of his celles & 50% normal celles? I need help pls.... This discussion is related to Balanced Translocation.
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Avatar universal
My granddaughter has Turners syndrome. She is 4 and in Pr-k and loves school. We have one problem. She talks all during nap time. She has to have a very dark room at home and very seldom takes a nap. We have told her she doesn't have to...
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4861077 tn?1360159739
my son has a duplication on his 3q29 chromosome does that mean he is mentally retarded as he is already diagnosed with autism pica and sleep disorders can anyone help me understand a bit more
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4861077 tn?1360159739
can you tell me if my son will live a full life with this deletion
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Avatar universal
well to start things off im 17 year old male that weights 110 pounds and am 5' 8'' im really underweight and i eat like a pig i have ridiclously tiny legs both my parents have massive legs especially calves but me, i have literally tooth...
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