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diseases caused by chromosomal mutations

A 50-year-old member asked:
Dr. Anna-Kaisa Niemi
15 years experience Clinical Genetics
Recessive disorder: Hurler syndrome is caused by a mutation in idua gene located in chromosome #4. It is an autosomal recessive condition which means that one has both co ... Read More
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A 60-year-old female asked:
Dr. Jay Park
Dr. Jay Park answered
49 years experience Pediatrics
Yes: Wiskott-aldrich syndrome is an example of x-linked recessive disorder.
A 47-year-old member asked:
Dr. Keith Vaux
26 years experience Clinical Genetics
Many types: There are many different types, for example, the most common type is achondroplasia which is on the short arm of chromosome 4.
A 23-year-old female asked:
Dr. Elizabeth Wallen
34 years experience Pediatrics
Don't understand: What do you want explained?
A 56-year-old member asked:
Dr. David Masiello
17 years experience Hematology and Oncology
No: There is no known genetic risk factors for hodgkins lymphoma, it is felt to be enviormental.
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A 45-year-old member asked:
Dr. Clarence Grim
56 years experience Endocrinology
Diabetes and genes: No by an inherited gene usually. We are not sure what they are however.
A 41-year-old member asked:
Dr. Ilene Ruhoy
20 years experience Neurology
Yes: HD is a truely dominantly inherited condition caused by an unstable expanded CAG trinucleotide repeat in exon 1 of the HD gene on chromosome 4.
A 44-year-old member asked:
Dr. Donald Kucharzyk
38 years experience Orthopedic Surgery
No: Polydactyly is the resultant from a developmental malforamtion that occurred in utero and is not related to inbreeding. This can cause other chromosom ... Read More
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A 46-year-old member asked:
Dr. Larry Armstrong
26 years experience Neurosurgery
Yes: Huntington's disease or chorea is attached to chromosome 4. This makes it genetic.
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A 54-year-old member asked:
Dr. Ed Friedlander
43 years experience Pathology
Hemophilia B: Factor IX. Travels on the X chromosome
A 49-year-old member asked:
Dr. Scott McLean
34 years experience Clinical Genetics
Both: Birth defects occur in every group of human beings on this earth. Often the cause is genetic, including chromosome rearrangements and mutations in sin ... Read More
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A 54-year-old member asked:
Dr. John O'Malley
53 years experience Child Psychiatry
No one knows: Asperger's syndrome now has been incorporated into autism spectrum disorders, which a great deal of work is being done to answer your question. We b ... Read More
A 43-year-old member asked:
Dr. Joel Gallant
35 years experience Infectious Disease
HIV: It's still only caused by HIV (hiv-1 and hiv-2).
A 41-year-old member asked:
Dr. Jonathan Dissin
38 years experience Neurology
No: The cause of multiple sclerosis is unknown, there is some evidence that is related to a viral infection and there is evidence that genetics plays a pa ... Read More
A 56-year-old member asked:
Dr. Sewa Legha
49 years experience Medical Oncology
Most are due to muta: Mutations are common in all cancers. In Leukemia the very first mutation(Single mutation, causing cancer was discovered in Chronic Myelocytic Leukemia ... Read More
A 53-year-old member asked:
Dr. Daniel Mass
45 years experience Hand Surgery
No: Polydactyly can be inherited but not because of inbreeding. Ulnar (lille finger side) polydactyly is very common in african americans. Thumb polydact ... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
15 years experience Clinical Genetics
It depends: It depends on what one means by dwarfism: a short stature in general (this depends on your ethnic origin as well) or a genetic syndrome which involves ... Read More
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A 47-year-old member asked:
Dr. Gurmukh Singh
48 years experience Pathology
Can be either: Genetic defects responsible for disorders can be on any chromosome.
A 40-year-old member asked:
Dr. Ed Friedlander
43 years experience Pathology
Hemiglobinopathies: There are hundreds of these, from trivial to diseases that are so severe they kill before birth.
A 45-year-old member asked:
Dr. Ed Friedlander
43 years experience Pathology
Yes and no: All benign and malignant tumors result from accumulated genetic mutations. There are a few hereditary illnesses in which a child inherits a first muta ... Read More
A 37-year-old member asked:
Dr. Marilynn Frederiksen
46 years experience Maternal-Fetal Medicine
Chromosomal: Chromosomes are the packaging for the genes. Genes are made up of dna. Chromosomal abnormalities are extra chromosomes, deletions, duplications, or tr ... Read More
A 37-year-old member asked:
Dr. Ruben Mesa
29 years experience Hematology
Not likely: Given most patients with hereditary spherocytosis (hs) have the disease lifelong would not likely cause a change in fatigue levels.

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