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Doctor insights on: Was I Born With A Genetic Predisposition To Infertility 46 Xx

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Was I born with a genetic predisposition to infertility? 46xx

Was I born with a genetic predisposition to infertility? 46xx

46XX = normal female: 46, xx = normal female chromosome pattern. If you're 46, xx & male (very rare) you need to see a specialist. If you're a woman there is usually no identifiable genetic cause of your infertility. Fragile x syndrome is a rare cause of ovarian insufficiency/ early menopause. Some women whose mom had early menopause are increased risk of low ovarian reserve themselves. Chromosome translocations are rare. ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Could i be born with a genetic predisposition to bipolar disorder?

Could i be born with a genetic predisposition to bipolar disorder?

Yes: There's an incompletely understood genetic connection in bipolar disorder. The most convincing evidence is studies of monozygotic twins, in which there's increased likelihood of bipolar disorder in both twins if one presents with this disorder. Children of bipolar parents are at higher risk than others, of developing a mood disorder. Growing up with a bipolar parent brings risks also. ...Read more

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Are choroid plexus cysts genetically inherited? If planning a family, should my wife and I have pre-pregnancy genetic testing?

Are choroid plexus cysts genetically inherited?  If planning a family, should my wife and I have pre-pregnancy genetic testing?

Whoa: Choroid plexus cysts are very common and almost always a non-problem. Further, they're not really hereditary. Your personal physician is the best person to advise you about any genetic risk. If somebody has a cyst and is concerned, get the facts from someone reliable. ...Read more

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What happens when a male with an x linked recessive genetic disorder has children with a female who does not carry the disease?

What happens when a male with an x linked recessive genetic disorder has children with a female who does not carry the disease?

No disease, but...: The scenario you describe would result in a male infant being totally normal, while a female infant would be a carrier that would most likely be unaffected, given that the mutation is recessive. Depending on the actual disease, it is theoretically possible for the female infant to have mild symptoms, since one x chromosome in each cell gets randomly shut down (lyonization). ...Read more

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I am a descendant of DES, and have a homozygous MTHFR mutation. Where can I find an OB-GYN who is familiar with both?

I am a descendant of DES, and have a homozygous MTHFR mutation.  Where can I find an OB-GYN who is familiar with both?

Your address: Ind icates that you live in New York City and any of the OB-GYN departments at the many University/Medical Schools will have a SPECIALIST in the DES descendant group of women. Do NOT be afraid to ask YOUR GYN for a referral He/She will know just who you should see and should NOT feel offended at your desire to have "super -Specialist"!!! Good Luck/Hope this is helpful Dr Z ...Read more

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When can a baby boy be checked for presence of vas deferens? My boy has a CF mutation and a 5t variant known to cause infertility issues

When can a baby boy be checked for presence of vas deferens? My boy has a CF mutation and a 5t variant known to cause infertility issues

Late: First you want to make sure he only has one mutation and not two. But i assume you likely know that already. A pediatric urologist may be able to detect that but usually you would need to wait a few years. It is usually know by physical exam. ...Read more

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I have a fraternal twin brother with microdeletion 22q11.2 (velocardiofacial syndrome). What are the chances my children will have the same disorder?

I have a fraternal twin brother with microdeletion 22q11.2 (velocardiofacial syndrome). What are the chances my children will have the same disorder?

Minimal: These odd micro-deletion syndromes are thought to arise as new defects which could be dominantly passed. Unless you carry it, you won't pass it to your kids and they would have the same risk as the general population to acquire it (new). You might benefit from discussing any and all genetic risk issues from both sides of the family with a geneticist. ...Read more

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Does a father with choroid plexus cysts have an increased chance of fathering a child with genetic challenges?

Genetic mutations : With choroid plexus cysts have other physical manifestations as well, according to the data base i reviewed. If you are concerned, ask your wife's ob/gyn for pre-pregnancy counselling by a prenatal genetic counselor to review your family history &your medical history. A chromosomal microarray ordered from lineagen at (801) 931-6224 can be done with a buccal swab kit that they send to the doctor. ...Read more

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I have Iris coloboma, it's a birth defect. Is PCOS linked with this condition? I know women who havePCOSandtheir baby was born with it. And vice versa

I have Iris coloboma, it's a birth defect. Is PCOS linked with this condition? I know women who havePCOSandtheir baby was born with it. And vice versa

Coloboma and PCOS: Coloboma means that you have a knob like shaped pupils. It may be related to defect in chromosome 22 and may be assoc with cardiac , skeletal and renal defect. It may also be assoc with absent or immature uterus or fallopian tubes. PCOS is a different condition which includes issues with hormones and lipids and obesity. ...Read more

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Is pendred syndrome 100% heredity? Could someone without pendred syndrome history in family will have a chance to have it?

Is pendred syndrome 100% heredity? Could someone without pendred syndrome history in family will have a chance to have it?

Recessive disorder: Pendred's syndrome is inherited in an autosomal recessive manner. This means that both parents must transfer a copy of the defective gene to the child in order for the disease to occur. If both parents are carriers of the trait, the child has a 1:4 chance of being affected. An important aspect of genetic disorders is penetrance- how will people with the genetic make up be affected. ...Read more

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I need to speak with a geneticist asap. I have passed on a cromosomal abnormality to my baby and have read many peer reviewed journal articles stating that she could die at an early age from all (due to the translocation) or later in life. It is a translo

I need to speak with a geneticist asap. I have passed on a cromosomal abnormality to my baby and have read many peer reviewed journal articles stating that she could die at an early age from all (due to the translocation) or later in life. It is a translo

I : I am not an oncologist or a geneticist, so unfortunately I am not expert enough in these areas to answer your questions. You should speak with the doctor that ordered the testing for you and your child. They should either be able guide you in what you should do next or recommend someone who can. I have also linked to two websites below for the medical genetics and medical oncology departments at duke. You can try contacting them to discuss your concerns if your doctor is unable to help. Good luck! ...Read more

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How early in a pregnancy can I have genetic testing done for downs syndrome?

How early in a pregnancy can I have genetic testing done for downs syndrome?

After10 weeks: First trimester screening can be done at 11-13 weeks. Definitive diagnosis by chromosome analysis can be done through cvs sampling after 10 weeks. ...Read more

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How can I have a genetic disorder if neither of my parents has a disease?

How can I have a genetic disorder if neither of my parents has a disease?

Basic biology: You may have inherited a recessive trait from each, or you may be a new mutation. Understanding this is essential knowledge for the 21st century. ...Read more

Dr. Liawaty Ho Dr. Ho
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How can I get a genetic test done to determine if I am a carrier of a leukemia genetic mutation?

Dr. Liawaty Ho Dr. Ho
2 doctors agreed:
How can I get a genetic test done to determine if I am a carrier of a leukemia genetic mutation?

No reliable test: There is no test like that. There are companies offering comprehensive genomic mapping etc- however, i would not recommend it as it is not primetime yet. There are a lot of questions in regard to that - ie. Not clear how reliable it is, how would you interprete the result , what is the consequency etc. It is for sure will increase your anxiety level. Discuss with your md in detail. ...Read more

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Is it safe for a man to marry his first cousin if they don't have any diseases running in their family.Genetic defects in offspring?

Is it safe for a man to marry his first cousin if they don't have any diseases running in their family.Genetic defects in offspring?

No: The fact that no disease runs in the family doesn't confer "immunity" to you or your relative when you marry. The problem is that you and her may carry certain similar genes that are suppressed by other genes but the two faulty genes come together, they cause the disease that was otherwise inactive, to become active. ...Read more

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I have been diagnosed with a genetic mutation called lynch syndrome. I have never had cancer and am in good heath. Can i still donate bone marrow ?

I have been diagnosed with a genetic mutation called lynch syndrome.   I have never had cancer and am in good heath.  Can i still donate bone marrow ?

Unlikely: Nmdp has criteria for selection, donors with genetic mutations are excluded , get in touch with nmdp.Org will advises you ...Read more

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I had an abortion in 6 months. As the baby was found to be having major cardiac congenital anomalies;our families have no conn. Can this happen again?

 I had an abortion in 6 months. As the baby was found to be having major cardiac congenital anomalies;our families have no conn. Can this happen again?

Hard to say: If you had results of an autopsy or at least a chromosome evaluation on the fetus we would have a starting point.Recurrence risk of simple chromosome anomalies is low, but you could be carrying a balanced chromosome defect.If so, recurrence risk could be quite high.You need to find a clinical geneticist (university or children's hospital) & have the case reviewed. ...Read more

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Could an abnormality in a parents chromosome 8 be hereditary? She developed mds and died from it.

Could an abnormality in a parents chromosome 8 be hereditary? She developed mds and died from it.

Yes: An abnormality on any chromosome can be hereditary, as our chromosomes carry the genetic material that we give to our children. Not all chromosomal abnormalities, however, are genetically received. Some can happen spontaneously. ...Read more

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Dr. Khurram Rehman
1,248 doctors shared insights

Infertility (Definition)

Infertility = inability to conceive or if a woman under age 35 - not being able to get pregnant after having regular sex for a year without birth control use. For a woman over 35 years old is not being able to get pregnant after having regular ...Read more