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What diseases can be diagnosed with a karyotype?

1 fertility expert(s) answered this question

What can we get to know from the karyotype test?

What is karyotype test for infertility? What are some of the medical applications of karyotyping? Does chromosome affect infertility?

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Answer from the fertility expert:
Raj Mathur, Chair of the British Fertility Society, Consultant at Manchester University NHS Foundation Trust

Karyotype for men can help us identify, it isn’t common but it is an important cause if there is no sperm in the ejaculate it’s one of the reasons why we do a karyotype in that situation. It’s not strictly speaking karyotype but slightly more detailed tests on the Y chromosome which is the chromosome that carries the genes responsible for normal sperm production. So a specific Y chromosome micro-deletion test can also help pick out some genetic causes for the lack of sperm production. Another genetic test that might be useful is cystic fibrosis testing in men. For women karyotype is much less commonly done and the scenario in which I can think it would be useful, would be where someone is suspected of having Turner’s syndrome where the ovaries don’t develop properly and usually the woman doesn’t start to menstruate until quite late or not at all and that is how this comes to light.

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