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.

Ask a question

1 - 20 (of 1420) questions

Goldberg Shpintzen Megacolon Syndrome

JON1953

Hello. I am brand new to this group. My daughter was just diagnosed with Goldberg Shprintzen Megacolon Syndrome. We have been searching f...

3 answers | 1 comment

Can i fix it?

Shron7

Hey, so i have a question about 2 "holes" i have under my chest,can i "fix" this problem? http://www.siz.co.il/my.php?i=iiyzjbddtmix.j...

I have Concerns about my 9 month old son, Macrocephaly.

KFSEVAN

My son is 9 months old and his head circumference is 50cm ( 100th percentile )amongst other symptoms. At birth he was diagnosed with M...

whole genome sequencing

loryn

I am considering having my genome fully sequenced. Does anyone know how much this would cost? Thank you in advance.

2 answers | 2 comments

DNA

JFB88

I have been told that my DNA count is low. What does this mean?

1 answer

Nasal bone issue in pregnancy B-ultrasound - 23W5D

ruguoabc

Dear all, I'm a Chinese, 31ys old, and this is my first pregnancy.Today is 25W4D. My nt is 1.2mm and low risk (less than 1:35000) f...

Anyone have TNN mutations?

Silent_Wolf

My wife recently found out she has 3 mutations on her TNN ?genome/sequence? She was born with a muscle myopathy, and has heart an respira...

1 answer

Ehlers Danlos

christiesmum

does anyone who uses this have ehlers danlos syndrome?

7 answers

JAK2 TESTING FOR POLYCYTHEMIA VERA

Rivkalea

My maternal grandfather and my mother both had polycythemia vera should I be tested for the jak2 gene?

Born with no enamel on teeth

kally79

I am interested in finding out if anyone has had the same experiences as me. I was born with no enamel on my teeth. This has went as far ...

12 answers

Aplasia Cutis Congenita

bandnmom

Has anyone ever heard of Aplasia Cutis Congenita? Or even know of someone who has this? I am desperate . My daughter was diagnosised wit...

18 answers

Chromosome 6q14.1 duplication

Dchi225

My 3 month old daughter had microarray testing due to some physical abnormalities ( low set ears, clinodactyly). The results showed a 686...

2 answers

Ehlers-Danlos

sandysandy

I have Ehlers-Danlos III. My mother was diagnosed with fibromyalgia and my daughter clearly has a case of Ehlers-Danlos III. So we thin...

10 answers

HC/FL Ratio - 4.62 @ 10% at 30 week growth scan

baby2001437

Hi, can you tell me how the HC/FL ratio is determined? Mine is showing a HC of 28.1cm (14%) and a FL of 6.09cm, yet the ratio is at 10% w...

brother and sister both Polycythemia Vera positive 1 + JAK2 and 1 -JAK2

myitalia

How to get a copy of the form 180 to apply but we need more paticular information for Gudja I don't know if anyone can answer this but...

2 answers

Clarification in Karyotyping Result

tyagi1983

My one months old baby had undergone Karyotyping Test and got this result 47,XX+21(20). What does this result mean.

my 1 mounth douther is down sydrom resuilt 47,xx+21(20) how resuilts

tyagi1983

my 1 mounth douther is down sydrom resuilt 47,xx+21(20) how resuilts

weird smell from armpits..(rotten fish like smell)

praveen_86

i am facing this problem for nearly last 1.5 years.. that my armpits smell like rotten or fish or some thing weird.. which makes me frust...

Possibilities to have children with Sickle cell anemia

MR_WHY

I’m carrier to Sickle cell anemia gene and my future wife too. I need to know the possibilities to have our children Sickle cell anemia...

1 answer | 2 comments

How does a saliva test help me to find my genetic disorders?

sathyalessburn

Please anyone explain me about saliva testing kit and it's uses.

1 answer | 1 comment

2 3 4 5

Ask a Question

VISUAL SNOW UPDATE: 2018

John C Hagan III, MD, FACS, FAAO

04/18

2018 General Information on Dry Eyes-Now known as Ocular Surface Disorder

John C Hagan III, MD, FACS, FAAO

03/18

TMJ – What a Pain in the Neck! “Elegant Ecology”

Hamidreza Nassery , DMD, FICOI, FAGD, FICCMO

01/18

Popular Resources

CML and the Philadelphia Chromosome: 50 Years of Progress

An interview with the co-discoverer of one of the biggest breakthroughs in cancer research

E-Cigarettes: More Dangerous Than Regular Cigarettes?

Smoking substitute may not provide such a healthy swap, after all.

22 Ways to Prevent a Heart Attack

How to lower your heart attack risk.

13 Fat-Fighting Foods

Trying to lose weight? Grab a snack that works with your diet, not against it. Check out these delicious, slimming foods.

13 Fat-Fighting Foods

Trying to lose weight? Grab a snack that works with your diet, not against it. Check out these delicious, slimming foods.

5 Reasons to Rethink Salt

How eating more salt may actually save your life.