Analysis of the clinical features of pericentric inversion of chromosome 9

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.

Rapid Ovarian Reserve Decline in a Woman with Pericentric Inv(9) Variant

“…We identified 12 additional studies while reviewing citations of the initial studies. We categorized the 24 studies into four groups: (1) studies comparing the prevalence of Inv(9) in individuals with infertility or RPL to controls, (N = 7) [7][8][9][10][11][12][13], (2) studies reporting the prevalence of Inv(9) in individuals with infertility or RPL, no control group (N = 12) [14-25], (3) studies comparing the prevalence of infertility or RPL in individuals with Inv(9) to controls (N= 1) [26], and (4) studies reporting the prevalence of infertility or RPL in individuals with Inv(9), no controls (N = 4) [27][28][29][30] (Table 1).…”

“…In our review, the prevalence of Inv(9) in individuals with infertility or RPL ranged from 0.01 to 3.7% with most estimates between 0.5 and 2.5% (Table 1). Of the seven studies that compared this prevalence to controls without infertility or RPL, three reported a higher rate of Inv(9) in individuals with infertility [7,9,13] and four did not find a difference [8,[10][11][12].…”

Erectile Dysfunction in Man with Hyperprolactinemia, Obesity and Genetic Abnormality 46XYinv(9)(p11q13)

“…20 A study of 2988 adult patients, 67 inv (9) cases were found and among them only 5 did not show any clinical feature and the remaining 62 adult exhibited different clinical features include infertility, azoospermia, bad obstetric history ang spontaneous abortion. 21 Although most expert considered this kind of inversion as normal variable, there still possibilities they carry another clinical problem especially in reproductive. The history of patient's childhood is not clear, so we did not know exactly whether there was alteration of genital development, micropenis or obesity in childhood but the in the initial examination, patient considered puberty was normal and there was no history of mumps and orchitis.…”