Inversion inv(9)(p22q22) is not the most common variant like inv(9)(p12q13), but it is pericentric and not so rare, too.
I could not find it in the literature regardless to the phenotype or prenatal issue.
Any suggestions?
Thanks
Yes, it is. The regions that are not inverted are in major concern, because they could be deleted or duplicated. There are cases with 9p22 deletion in the literature, that could be a consequence of an inversion, but I could not find the data about it.
Finally, there is a general rule for this kind of aberration: if you find it in parent(s), you should recommend prenatal diagnostics, and I am much closer to that standing.
That is the policy in our lab for decades, but I just wanted to here something more about it, about the experience of the others...
Dear Sania,
I've found at least three cases with a similar inversion.
One case was very interesting because the couple underwent karyotype examination for a previous pregnancy ended after fetal US diagnosis of Dandy Walker Malformation. DWM has been described in literature in association with partial 9p trisomy/tetarsomy; unfortunately fetal karyotype had not been performed.
Hoping this information is useful for you
Mattia
Thank you for answering, it is very useful information. I forgot to mention that many of the couples with this inversion had a history of early spontaneous abortions also. All of these findings support general recommendations for prenatal diagnosis.
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