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Midway, GA
A 19-year-old male asked:

Does a karyotype show osteogenesis imperfecta?

2 doctor answers4 doctors weighed in
Dr. Shari Jackson
Radiology 21 years experience
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.
Dr. Linda DiMeglio
Pediatric Endocrinology 28 years experience
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.

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NY
A female asked:

What does the karyotype of a person who has osteogenesis imperfecta look like?

1 doctor answer3 doctors weighed in
Dr. Matt Wachsman
Internal Medicine 36 years experience
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 dominant... one good gene one bad gene 3) it is the GENE... sub microscopic change in a handful of atoms in DNA.. NOT the chromosome.

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Last updated Nov 4, 2018
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