AI Article Synopsis
- The study re-evaluates the clinical impact of pericentric inversion of chromosome 9 (inv9), a common chromosomal variation, by analyzing data from 4853 patients.
- Among 2988 adults, 67 had inv9, with many exhibiting clinical features like infertility and azoospermia.
- The research indicates that while inv9 is not definitively pathogenic, it underscores the need for better genetic counseling for affected individuals during early pregnancy and adulthood.
Article Abstract
Objective: The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9.
Methods: We studied the karyotypes from 4853 patients at a single center and retrospectively reviewed their clinical data.
Results: There were 67 inv9 patients among 2988 adults, and 62 of them showed different clinical features, including male and female infertility, oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse pregnancy outcomes.
Conclusions: Although there is no clear evidence that inv9 is pathogenic, the genetic counseling on inv9 in early pregnancy and adults needs to be given more attention.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513406 | PMC |
| http://dx.doi.org/10.1177/0300060520957820 | DOI Listing |
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