Conditions | Diseases | Extra or Missing Chromosomes
ConditionsJun 12, 2009: Is psoriasis genetically transferred? From which parent? Are there any modern gene therapy treatments? May 29, 2009: My wife and I have two sons who both wet the bed. One common answer that we continue to come across is genetics. However, neither my wife nor I wet the bed as a child. But my wife tells me that her brothers did (her sisters didn’t). Would it be possible that my wife carries this family gene and passed it down to our two sons even though she never had the problem? May 08, 2009: Is epilepsy genetic? Apr 09, 2009: Could you please explain the genetics behind white cats with blue eyes and the possible deafness because of this? I am looking for a simple explanation for my students. There is a lot of info out there, but in many, many places. It’s hard to find a simple explanation of all the alleles and genes involved without reading pages and pages about general cat breeding. Mar 19, 2009: I am a father and I am very dyslexic. My wife’s brother is very dyslexic too. I have four children and two are dyslexic. What are the chances that their children will be dyslexic? Jul 02, 2008: Has there been any research about people who are fortunate to have very low cholesterol levels? My mother and I both have numbers in the low 120's from year to year, although both of us really do not do anything special as far as diet goes. I love butter and greasy potato chips! Is there any downside to a low cholesterol level? May 22, 2008: Is bi-polar disorder transmitted genetically? Is this considered the only way to get the disease? What are the odds of transmissions to future generations? Feb 01, 2008: My daughter is allergic to nuts, are there any new developments to cure the allergy? Jan 24, 2008: My parents are both lactose intolerant. Does that mean when I grow up I will be lactose intolerant? Jan 17, 2008: If your parents are a certain weight, what is the chance you will be the same? Jan 10, 2008: Have scientists been able to link certain genes to eating disorders? Sep 14, 2007: I'm curious what is known in regards to DNA about Tourette syndrome. Is it known if this gene is recessive or dominant? Jun 13, 2007: Are peanut allergies genetic? Mar 23, 2007: I believe that I have Attention-Deficit Hyperactivity Disorder (ADHD) and I think it is a result of the alcohol and tobacco use of my mother while she was pregnant with me. If that is true, is it also true that it is now a part of my genetic make-up and something that my children can inherit? Dec 08, 2006: Why am I always hungry and therefore overeat? Is there a genetic component to our appetites? Jun 09, 2006: My husband has ADHD. I do not. My mother has ADHD though. What are the chances my son will have it and does it follow the mother or father? Apr 14, 2006: Is alcoholism genetic? Feb 10, 2006: Is eczema a genetic disease? Jan 11, 2006: Are the genes we pass on to our children affected by the age we conceive? Are our children more likely to have genetic issues, if we are older? Is the father or mother likely to influence their outcome based on their age? Aug 03, 2005: I read that lactose intolerance is caused by a genetic mutation. I previously consumed dairy, but have been a vegan for over a year now. I have heard some vegans say that they couldn't return to drinking dairy after being vegan for a long time because their body built up an immunity to it.
But if lactose intolerance is genetic, how is this possible? Are there multiple ways to build or weaken your tolerance for dairy? Jul 27, 2005: Am I genetically predisposed to being a smoker? Mar 11, 2005: All I know about geographic tongue is the name (my doctor told me) and that my Mom has it, too. Is this genetic and what exactly IS geographic tongue and why do some people have it (sometimes!) Jan 19, 2005: I am dealing with infertility and recurrent miscarriages (3 under age 32, 4 over age 39) Only the last two were genetically analyzed (Trisomy 2 and Trisomy 15, respectively). Both my husband and I have normal karyotypes. My first pregnancy resulted in a normal baby however. No other causes for miscarriage can be found except bad eggs, though why they went bad in my 20's is hard to understand. But in the absence of hard evidence, we just presume that all the miscarriages were due to chromosomal abnormality.
So my question is, I have read that folic acid can help prevent Down syndrome in women with MTHFR (I don't have that), but, can folic acid also help prevent other chromosomal abnormalities (besides 21) in women who do not have MTHFR? Dec 17, 2004: Can a female get color-blindness from her father's side? My husband and all his brothers are color-blind. Is there a chance my daughter could be too? I don't know of any color-blindness in my side of the family. Nov 23, 2004: Is it known whether poor eyesight (both nearsightedness and farsightedness) is a dominant or recessive trait; or is it yet unknown or a combination of different genes? Nov 19, 2004: I have acne on my face and my husband doesn't. Is there any likelihood that our children will have acne? Oct 25, 2004: Hi. Well my grandmother on my father's side has amelogenesis imperfecta (that is where there is no enamel on the tooth). My father got it as well as his 2 sisters and one of his brothers. For one of his sisters, 2 out of 4 children got it; a girl and a boy. His other sis's children did not get it and they are all boys, but all of my sisters have it. Would my children get this? What are the ratios of my kids getting it? Would you say it is a dominant allele? Especially for women than men? Aug 05, 2004: Hi. I am 25 yo female with bilateral colobomas and was wondering about what causes it and whether genetic tests are available.
The outward appearance of my eyes is "weird" to most. I conceal the look by wearing special contact lenses which are hand painted. They create a normal facade of the eyeball itself...making the deformity quite difficult to spot at times. I have light perception in my right eye, and decent vision in the left eye.
I was adopted at the age of six months, and therefore, do not know much of my family background. I have been told, but not by a genetics expert, that my disorder is hereditary, and will be passed on...hence, the name congenital. However, I am curious to know if there is a DNA test that can be done to verify if it is indeed genetic. I am also at that stage in life where my husband and I want to start a family. Is there any test that can be done to test the fetus to determine if this has indeed been passed on? Jun 22, 2004: I have had two miscarriages in a row and am worried. I am a 35-year-old female with no genetic family history problems. My partner has no genetic family history problems either. I have a 10-year-old normal boy by my first marriage, and a normal 3-year-old boy by this marriage. I became pregnant last year right before my husband was deployed to Iraq. I lost that baby to Turner's syndrome (karyotype was performed to confirm). I was recently pregnant this year, and lost this
baby to another cystic hygroma, usually consistent with Turner's also, but wasn't confirmed. Hygroma measured 5.2 at 11 weeks.
Why would I have these two occurrences twice in a row? Is this rare? If I get pregnant again will this happen again? Genetic testing is very expensive, and I can't understand that if I have 2 normal children, how could this be genetic or is it? I also sometimes think maybe this could have been caused by military vaccines?
DiseasesNov 19, 2009: Are any people genetically predisposed to being immune to HIV? Sep 30, 2009: I'm just wondering about Charcot-Marie-Tooth disease. My sister has it and she had to have surgery on her legs because some tendons were too short I think. No-one else in my family seems to have it but I'm worried that if I have the gene for it then the baby my wife and I are having might have it. How is it passed on and what are the chances that I have it and that I would pass it on? Aug 25, 2009: What’s the big deal about swine flu? It’s a flu that’s a bit more dangerous, and it’s harder to make a vaccine. They’ve quarantined people over it and shut down schools. Jul 30, 2009: If I am a type 1 diabetic (since 25 years) - what is the probability that due to genetic transformation my child/children could be diabetics too? Is it true that type 1 diabetics are genetically inherited from ancestors or is it a combination of factors? Jul 09, 2009: Now that funds are available for stem cell research, how long until there is an effective treatment or cure for Alzheimer’s disease? Jun 25, 2009: I have a disease called Ulcerative Colitis. Do genes cause my disease? Dec 04, 2008: What is currently being done about Cystic Fibrosis? I have two daughters who suffer from the disease. Sep 18, 2008: I know that a woman with type O blood can have a healthy baby with type B blood. Why doesn't the baby develop a "hemolytic" type disease? I understand hemolytic disease of the newborn is related to Rh factors and understand how that part of it works, but just don't understand why a similar type of situation doesn't occur when they baby is of a different ABO blood type? Feb 28, 2008: If we are predisposed through our genetic blueprint to certain illnesses, diseases, then what is the point in taking remedial action to prevent these? Does the process of, say, reducing our cholesterol intake change the inherited DNA through the mutation process? If not, then what is the point in reducing our cholesterol? We're destined to die of a heart attack so we might as well eat what we like. The same applies to that worrying disease Alzheimer's. We are told if we exercise our minds, study a foreign language (which I am in reading about Genetics) it will help to prevent the disease. Yet, if it is encoded in our DNA how can this be changed? Feb 14, 2008: I was diagnosed with adult onset diabetes ten years ago at age 40, but was able to control it with diet, exercise, and oral meds until this year. I am now using "emergency" insulin injections (Humolog) in conjunction with my meals. Is there any hope that stem cell research might have an effect on this disease? Feb 07, 2008: I want to determine if my next child have asthma. I have 2 children, 1 has asthma and one does not, my husband and I both had childhood asthma. Is it possible to study my genes and those of my spouse to determine the chances of my child having asthma? Oct 18, 2007: What is the latest research on the genetics of Multiple Sclerosis? Oct 11, 2007: Is cancer inherited? Apr 26, 2007: What is known about the genetics of schizophrenia? And the genes involved? Are there any genetic tests available? Apr 19, 2007: I am a girl and would like to know if I am at risk for breast cancer. Does it come genetically or it is mostly from the food that you eat in everyday life? Jul 21, 2006: What role does genetics play in hypothyroidism or the effects of hypothyroidism? Mar 31, 2006: If the incidence of autism has increased 10-fold in the last 10 years (faster than a genetic mutation), then why are scientists still looking for a genetic cause?? Jan 03, 2006: Is diabetes a genetic disease? Dec 14, 2005: My twin granddaughters were recently diagnosed with celiac disease (an intolerance to wheat). They say this runs in families. Is it genetic and should we all be tested for this disease? Oct 20, 2005: I have mild cystic fibrosis on both sides of my family. I have all the symptoms of CF—bronchectiasis, malabsorption, diabetes, chronic sinus infections and polyps that have been surgically removed 7 times! My sweat test is normal.
My DNA analysis reveals DF508, M470V, 7T/9T polyvariant. Do you know if this would be considered CF now? What is M470V responsible for doing in the human body? Is it now considered a CF gene? If not why? I have every symptom of this disease there is and can't get the diagnosis. This leads to me no longer being able to get the drug Pulmozyme for my lungs. Aug 30, 2005: Three of my grandparents had Rheumatoid Arthritis and my mother now has it. It appears, at least on the surface to me, to be at least partially related to genetic inheritance. Is this indeed true? And if so, is there a genetic marker that can be tested for and are they using this to help find a cure? Aug 12, 2005: If we live long enough, would everyone eventually develop some form of cancer? Jul 22, 2005: My 3 yr old grandson was diagnosed as having glycogen storage disease type3a. The doctors said it was genetic, but until he was diagnosed no one in our family had ever had a liver problem. What are the chances of this disease popping up again in our family? The doctors said his chances of getting this disease were 1 in 200 million. Jul 19, 2005: There are a lot of cases of lupus on my mother's side of the family. Both my mom and my younger sister have it. Is lupus genetic? Can I pass it on to my daughter? I want to know—I have seen what this illness can do. I want to be ready. Jun 28, 2005: My roommate has a direct link with Parkinson's disease with her father. Is there a test to see if she has the this disease? Are there any studies going on relative to this subject? Has anyone been looking at [very] early signs? May 13, 2005: What role do genes play in schizophrenia, depression, and mental illness in general?
Mar 01, 2005: Do certain humans have a genetic predisposition to Creutzfeld-Jakob Disease (CJD)? Feb 22, 2005: The whites of my eyes have a bluish tint to them. I was told by my parents that marrying a woman with the same coloration would be bad for our children. They would be likely to have a brittle bone disease. Has any research been done on the cause of the blue whites? Jan 28, 2005: My husband and his ex-wife have 3 sons - two teenage boys with autism and mental retardation and a healthy 7-year-old boy. He and I have one healthy daughter, almost two. The risk of us having an autistic son is something like 4-12% (based on 2 siblings and a recurrence risk of 2-6% for 1 sibling which is what I found on the internet). What is the risk for a daughter? (I know it's less) And since siblings share 1/2 their genes and half-sibling share 1/4 of their genes, wouldn't our risk be slightly less than that 4-12%? Jan 21, 2005: My husband has CABVD, and possibly atypical Cystic Fibrosis. What are the statistics of people with CABVD and Cystic Fibrosis and/or Carrier? Also, what is the likelihood our son will have CABVD? Jan 13, 2005: I am a 31 year old ultrasound technologist. Three years ago I lost a baby girl when I was 5 months pregnant. I was scanning myself at 13wks and discovered the cystic hygroma with hydrops. I had an amnio a few weeks later which was normal. About a year after my loss they discovered that I have the Factor V LEIDEN mutation(hetero), as well as MTHFR A1298C. I am also RH-. I do have a healthy baby girl now that is 6mths old. I took heparin injections during this pregnancy. My question is: could there be any correlation between my pregnancy loss and the factor V??? Dec 14, 2004: I have asthma and I was wondering if I would ever grow out of it and also if when I have kids if they would have it as well? Dec 10, 2004: My father had ankylosing spondylitis. I am 53 years old and have scoliosis and some back pain. Recently I had SI joint X-rays that were normal. What are the odds of me having ankylosing spondylitis? Dec 09, 2004: My husband was recently diagnosed with FH-Familial Hypercholesterolemia. I'm concerned that the extremely high cholesterol levels will likely lead to chest pains, high blood pressure and a heart attack. Can you tell me more about FH? Nov 24, 2004: Hi. My wife is a carrier of fragile X, with 80 repeats on one X. (There is no history of Fragile X in her family, and our son is not affected.) What are the chances that our children will have fragile X?
Just a side question, her father has green/red color blindness. Could this have any significance? Assuming the Fragile X was inherited from her mother, does this mean our sons would all either have the Fragile X gene or be colorblind? Nov 02, 2004: I have a question about my son's health and segmental NF. During a routine annual physical exam, at the age of 8 yrs. old, I questioned my son's pediatrician about the noticeable freckles in my son's armpits and on the left side of his neck (which only became noticeable within that year). She referred us to a pediatric dermatologist, concerned that it was neurofibromatosis.
The dermatologist immediately responded that he doesn't have NF, because he does not have cafe au lait spots to fit the size and number criteria; he is advanced academically, and has no hearing problems. Then the dermatologist backpedaled and stated that perhaps we should see a geneticist because there is such a thing as "segmental NF".
My son is 14 years old now, in the throes of puberty (which I've read is the developmental stage when manifestations most often occur), without noticeable tumors, very athletic, and very strong academically. Is it wise to seek the advice of a geneticist for a "diagnosis" or not? Is there still only palliative treatment for confirmed cases of NF? Jul 20, 2004: I recently found out I was pregnant with baby#4. My first 2 children are normal, #3 was born with cystic hygroma, I am wondering if this is genetic and the possibilities of this reoccurring. Thanks.
Extra or Missing ChromosomesJan 30, 2009: Are you born with the Philadelphia chromosome? If not, how do you get it? Jan 22, 2009: My son was born with full trisomy 13. Is it possible to say how early the chromosome split the wrong way? In other words, was it before conception or very soon after? Or is it impossible to know? Thank you. Jan 15, 2009: My father is XYY. Is there something genetic that could have caused this when his father and mother conceived him? Or is this a totally random occurrence? Does him being XYY affect his offspring in anyway? If so how and why? Could it be possible it made him more likely to have girls? Jul 23, 2008: What could possibly cause a chromosome disorder like trisomy 18? I understand how it happens, but are there environmental factors that can cause the presence of an extra chromosome? Oct 04, 2007: Why is it that older women are more likely to have babies with complications like Down syndrome than younger women? Jul 19, 2007: I have heard that the MTHFR mutation can affect whether a woman has a baby with Down syndrome or not. I have also heard that taking folic acid can help. Does the MTHFR mutation also affect men? Can they benefit from extra folic acid as well? Feb 15, 2007: Why are some chromosomal abnormalities more devastating than others? For example Trisomy 13 versus xyy. I figure it has to do something with the genes located on those chromosomes but what genes on those chromosomes make it so devastating to have extra copies? Apr 05, 2005: Since it is already known that Down Syndrome is caused by an extra chromosome at the 21st, what needs to be done to intercept or remedy this condition? What is being considered now? Is there anything that looks promising? Jul 13, 2004: I have heard a lot about Down syndrome and chromosome 21. I have also heard a lot about chromosome 21 and Alzheimer's. Is there any correlation between Alzheimer's and Down syndrome? Isn't chromosome 21 the chromosome that is duplicated when someone has Down syndrome? Jun 03, 2004: What will be the effect on our body if chromosome number is altered from 46? May 25, 2004: In Down syndrome besides regular trisomy there is a chance of having a translocation of chromosome no.21 with chromosomes 13, 14,or 15. One of the parents can be a balanced carrier of this translocation. I read that if a father is carrier then there is an increased chance of having an affected child than if the mother is a carrier of translocation. Why is this difference?
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