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osteogenesis imperfecta karyotype

A 19-year-old male asked:
Dr. Shari Jackson
21 years experience Radiology
No: A karyotype is useful for detecting chromosomal abnormalities where the number of actual chromosomes is abnormal (e.g., Down syndrome or turner syndro ... Read More
Dr. Linda DiMeglio
28 years experience Pediatric Endocrinology
No: To diagnose osteogenesis imperfecta you need genetic testing of your dna which can be extracted from blood or a skin biopsy. A karyotype is useful for ... Read More
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A female asked:
Dr. Matt Wachsman
36 years experience Internal Medicine
Like everyone elses: it is a group of at least 8 genetic disorders. allthough it's genetic: 1) 35% didn't have it in their families (spontaneous mutation?) 2) it is domina ... Read More
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A female asked:
Dr. Rifat Naghmi
46 years experience Internal Medicine
Osteogenesis: This is a rare inherited disorder characterized by several features including but not limited to blue sclera and pathologic fractures.
Dr. Warren Wolfe
58 years experience Family Medicine
Genetic problem: It is caused by a mutation in the gene that has to do with collagen production. Collagen is a constituent of bone.. The out come of this major mutatio ... Read More
A 37-year-old member asked:
Dr. Martin Morell
29 years experience Rheumatology
When : the bone is developing, the architecture is not sound, or has weakness.
A 34-year-old member asked:
Dr. Howard Feinberg
37 years experience Rheumatology
Genetic disease: This is a disease of type 1 collagen. It is inherited and comes in several forms. Some of these forms cause the white part of the eye to look blue. ... Read More
A 43-year-old member asked:
Dr. Peter Ihle
54 years experience Orthopedic Surgery
No: It's a genetic disease, u do not get it as in infection.
A 34-year-old member asked:
Dr. Jay Park
Dr. Jay Park answered
50 years experience Pediatrics
Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion. Rare cases of OI, type II B &and type II C, are transmitted in autosomal ... Read More
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A 40-year-old member asked:
Dr. Tariq Niazi
43 years experience Orthopedic Surgery
You need to be eval-: Uated. If its confirmed, your family might need to be checked for it as well. A geneticist might be able to help if you are planning additions to th ... Read More
A 31-year-old member asked:
Dr. Chad Rudnick
10 years experience Pediatrics
Osteogenesis...: There are several types of osteogenesis imperfecta (OI). Type I is the mildest and most common form of the disorder. It accounts for 50 percent of the ... Read More
A 32-year-old member asked:
Dr. Robert Lowe
17 years experience Pediatric Rheumatology
Genetic disease: For excellent general info go the NIH website here: http://ghr.Nlm.Nih.Gov/condition/osteogenesis-imperfecta.

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