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Doctor insights on: Autosomal Recessive Microcephaly

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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. Anthony Barkovich
122 doctors shared insights

Microcephaly (Definition)

Is a neurodevelopmental disorder with a head circumference more than 2-3 standard deviations below the mean for age & gender. It may be congenital or develops in the first few years of life. It stems from wide variety of conditions that cause abnormal brain growth, or from syndromes associated with chromosomal abnormalities. Life expectancy is reduced, depending on ...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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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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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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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

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Sickle trait is a recessive gene?

Sickle trait is a recessive gene?

basically yes: The mutation that causes sickle cell disease is a recessive mutation in that you need two copies of the changed gene to have the disease (or one copy plus another mutation on the other gene like beta thalassemia, hemoglobin c, hemoglobin e, etc). If you only have one copy, you have sickle cell trait. ...Read more

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Is cystic fibrosis autosomal dominant in genetics?

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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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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Is trisomy 13 dominant or recessive?

Is trisomy 13 dominant or recessive?

Neither: Any defect like trisomy 13, that involves acquiring an extra chromosome, has nothing to do with dominant or recessive genes. It occurs when usually the egg carries 2 rather than 1 of the 13 chromosomes. Fertilization by a normal sperm with one of every chromosome creates an embryo with three # 13's.If the embryo survives pregnancy it emerges as a trisomy 13 infant with all the problems they have. ...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 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 is the difference between autosomal dominant and autosomal recessive inheritance?

What is the difference between autosomal dominant and autosomal recessive inheritance?

2 copies of genes: We all have two copies of each gene in our chromosomes. In autosomal dominant conditions you only need one copy of the gene to have the disease. In autosomal recessive conditions you need two copies in order to have the disease. It is called recessive because people with only one copy do not have the disease, that is the conditions recedes or is hidden. ...Read more

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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 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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Is sickle-cell anemia a recessive, sex-linked trait?

Is sickle-cell anemia a recessive, sex-linked trait?

Yes and no: Sickle cell disease is recessive; you need to inherit a sickle gene from both parents to get the disease. It is not x-linked, however; if it were it would affect only boys. Boys and girls are equally affected by sickle cell disease. ...Read more

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Is sickle cell dominant or recessive in its inheritance?

Is sickle cell dominant or recessive in its inheritance?

Recessive: Sickle cell is autosomal recessive which means both parents must have a copy of the defective allele (one or both can be carriers but exhibit no symptoms). ...Read more

Small Head (Definition)

Head circumference of less than 5th percentile for postnatal ...Read more