Does a karyotype show osteogenesis imperfecta?

No: A karyotype is useful for detecting chromosomal abnormalities where the number of actual chromosomes is abnormal (e.g., Down syndrome or turner syndrome) or a large defect in a chromosome (like a duplication or translocation). Oi is caused by small mutations in a number of possible genes. There are some prenatal tests available for oi.

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 counting and typing chromosomes, and may also be able to detect large deletions of parts of chromosomes, but does not provide enough detail to be able to detect the mutations that cause the disease.