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Doctor insights on: Autosomal Recessive Congenital Ichthyosis

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Celiac autosomal recessive?

Celiac autosomal recessive?

Possibly: There are several gene-markers which make a person more likely but not certainly to develop celiac disease. It is certainly not sex-linked. Perhaps there are still other genetic markers or mutations required for one to develop the full-blown disease. ...Read more

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Dr. Christopher Scott
75 doctors shared insights

Ichthyosis (Definition)

A skin disorder that leads to dead skin cells accumulating in thick, dry scales on the skin's surface. This is hereditary and can range ...Read more


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Is leukemia an autosomal dominant or autosomal recessive condition?

Is leukemia an autosomal dominant or autosomal recessive condition?

Neither: Leukemia has a variety of factors of influence;however,it is not inherited as a simple autosomal recessive or dominant trait. ...Read more

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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Are all autosomal dominant diseases inherited?

Are all autosomal dominant diseases inherited?

Or new mutations: Mendel's laws. For example, many cases of achondroplasia, which an autosomal dominant disease, happen in children of unaffected parents as a result of a mutation in a sperm or egg. ...Read more

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How is autosomal recessive inheritance different?

How is autosomal recessive inheritance different?

Both parents: Autosomal recessive inheritance means that you have to inherit the gene from both parents. Some examples: cystic fibrosis, sickle cell disease. ...Read more

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Is hla-dq2 autosomal dominant?

Is hla-dq2 autosomal dominant?

No: The histocompatibility antigen system is totally different and has nothing to do with being either dominant or recessive. ...Read more

Dr. Judy Orton Dr. Orton
10 doctors agreed:
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Is cystic fibrosis autosomal dominant in genetics?

Dr. Judy Orton Dr. Orton
10 doctors agreed:
Is cystic fibrosis autosomal dominant in genetics?

Recessive: Both parents must carry the gene with a 25% chance (1:4) with each conception that the baby will have cystic fibrosis. ...Read more

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What are dominant vs recessive gene diseases?

What are dominant vs recessive gene diseases?

See below: With a dominant gene trait, the child only needs to receive one copy of the abnormal gene. So, they have a 50% chance of getting the gene. With a recessive gene, the child needs 2 copies of the gene. So, they have a 25% chance of having both genes. ...Read more

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Is edward's syndrome autosomal or sex-linked? Dominant or recessive?

Is edward's syndrome autosomal or sex-linked? Dominant or recessive?

None of the above: Edward syndrome is brought on by an abnormality of chromosome numbers, specifically an extra 18. The abnormal egg with a single chromosome 1-17 & 19-22 + x has a pair of 18's. When the sperm brings a single chromosome 1-22 + x or y then the embryo ends up with 47 chromosomes rather than 46 in every cell.(3-18's) the excess distorts the organ building information & defects arise. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Is angelman syndrome dominant or recessive?

Neither: Angelman's syndrome doesn't follow simple mendelian genetics. Rather, it's due to de novo single genetic mutations, translocational errors, chromosomal abnormalities, or more commonly epi-genetic mutations such as changes in dna methylation. ...Read more

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Is cystic fibrosis a dominant or recessive trait?

Is cystic fibrosis a dominant or recessive trait?

Recessive: One needs two defective copies of the cystic fibrosis to develop the disease. ...Read more

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What are some autosomal recessive disorders?

What are some autosomal recessive disorders?

CF/sickle cell: Cystic fibrosis and sickle cell anemia are 2 common recessive diseases. ...Read more

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Is the beta-thalassemia gene recessive or dominant?

Is the beta-thalassemia gene recessive or dominant?

Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...Read more

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Is hypertrophic cardiomyopathy hereditary? Sex-linked or recessive?

Is hypertrophic cardiomyopathy hereditary? Sex-linked or recessive?

Yes: Hypertrophic cardiomyopathy is almost always hereditary, being an autosomal dominant condition. It commonly runs in families, thus the importance of evaluating everyone in the immediate family (siblings or children) with echocardiography since hypertrophic cardiomyopathy is a potentially fatal condition, particularly in young people and young athletes. Detection is the key to saving a life. ...Read more

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Is turner's syndrome dominant or recessive?

Neither: It is due to lack of one in the pair of X chromosomes. ...Read more

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Hello I have congenital ichthyosis and currently taking (soriatane (acitretin) 10mg). Is there a better treatment in the us ?

Good drug for you: Topical therapies are many and can be very helpful. Soriatane (acitretin) at your dose is usually very safe. National icythyosis association is very helpful. ...Read more