Question 1

what kind of inheritance pattern does scid have?

Accepted Answer

Autosmal recessive: The genetic forms of severe combined immunodeficiency are caused by enzyme deficiencies, with affected individuals having two abnormal genes at the enzyme locus. Parents will have one normal and one abnormal gene with 50% enzyme activity (enough to produce immune cells).  Parents will have a 25% risk for scid with each future pregnancy.

Question 2

what is the inheritance pattern of fabry disease?

Accepted Answer

X linked recessive: Fabry disease is an x-linked recessive lysosomal storage disease.

Question 3

can you please define down syndrome inheritance pattern ?

Accepted Answer

There is none: You do not inherit ds from your parents in the traditional dominant or recessive fashion. During formation of the egg, only one of a pair of  the 23 separate chromosomes is present so the sperm bringing 23 will reestablish the 46. Ds occurs when an extra 21 (or piece of a 21) is present in the egg after conception. This  is a chromosome number change, not an inherited trait.

Question 4

what are inheritance patterns in burkitt lymphoma?

Accepted Answer

Not clear: For the common type diagnosed in this country it is not clearly inherited.

Question 5

what type of inheritance pattern is cri du chat syndrome?

Accepted Answer

Spontaneous/inherite: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations  and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material.

Question 6

can you please lay out the  inheritance patterns for polycystic kidney inheritance?

Accepted Answer

Every generation: The most common form of polycystic kidney disease is autosomal dominant. That mean that a person who has the disease will have a 50% chance of passing it on to each child. Like a coin toss, that does not mean that 50% of children will get it. It could be all or none. The disease does not become clinically apparent for many years but can be detected by ultrasound. Control of BP is very important.

Question 7

what is the  inheritance pattern for osteogenesis imperfecta?

Accepted Answer

Autosomal dominant.: Autosomal dominant mutations in col1a1/col1a2 genes account for 90% of osteogenesis imperfecta cases.

Question 8

can you tell me about osteogenesis imperfecta inheritance patterns?

Accepted Answer

Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion.  Rare cases of OI,  type II B &amp; type II C, are transmitted in autosomal recessive inheritance.

Question 9

is there any specific pattern of inheritance in thalassemia?

Accepted Answer

Autosomal recessive: It is autosomal recessive inheritance. If two parents are carriers, 25% normal, 50% carriers, and 25% affected with disease. I hope this helps. :)

Question 10

how does the autosomal dominant pattern of inheritance work?

Accepted Answer

See full answer: Every person has 2 copies of every gene -- one from the mother and one from the father. When a disease is caused by a mutation in a gene and it follows an autosomal dominant pattern of inheritance, this means that only 1 copy of the mutated gene needs to be inherited to have the disease.

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Doctor answers about:

Inheritance patterns

A member asked:

What kind of inheritance pattern does scid have?

A member asked:

What is the inheritance pattern of fabry disease?

A member asked:

Can you please define down syndrome inheritance pattern ?

A member asked:

What are inheritance patterns in burkitt lymphoma?

A member asked:

What type of inheritance pattern is cri du chat syndrome?

A member asked:

Can you please lay out the inheritance patterns for polycystic kidney inheritance?

A member asked:

What is the inheritance pattern for osteogenesis imperfecta?

A member asked:

Can you tell me about osteogenesis imperfecta inheritance patterns?

A member asked:

Is there any specific pattern of inheritance in thalassemia?

A member asked:

How does the autosomal dominant pattern of inheritance work?

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