Chromosomal Defect…Say WHAT?

In the midst of dealing with DH’s depression diagnosis, he also got a call from our fertility doctor about a cytogenetics test he took when he met with the urologist. The test showed that DH has a paracentric inversion of chromosome 1.

I had, still have, no idea what this means. DH has been referred to a geneticist, but it will probably be weeks, if not months, before we get an appointment.

Of course, I had to turn to Google.
From what I found, there are two types of inversions, pericentric and paracentric. There are two sections to a chromosome. A pericentric inversion is when the inversion happens on the centromere, I guess the connection between the two sections. Whereas a paracentric inversion happens on one of the tails.

I don’t know what this means for us. I know that chromosomal defects can cause miscarriage. A defect in chromosome 1 can also cause severe mental retardation. Chromosome 1 is also the largest chromosome in our DNA. DH is healthy (except for his sperm and diabetes), so I’m not sure how this inversion affects him. All we can do now is wait for our appointment with the geneticist.

16 thoughts on “Chromosomal Defect…Say WHAT?

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