High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism

Abstract

The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.

High Frequency of 45,X/46,XY mosaicism carring a structurally abnormal Y chromosome in patients with Y chromosome microdeletions: a 8-year period retrospective study

“…The prevalence of 45,X/46,XY mosaicisms or its variants in this male infertility study was 0.29% (19/6545) (approximately 29/10,000), which was consistent with previous studies (0.27%) [9]. However, this is much higher than its incidence (1.5/10,000) in newborns [10] In the present study, the most frequent microdeletions were detected in the AZFc region, followed by the deletion of the AZFb + c region.…”

“…In this study, we analysed 6545 infertile men and found that 68.42% (13/19) of patients with 45,X/46,XY mosaicism had AZF microdeletions. In previous studies, Li et al investigated 5269 cases of infertility men and found that 71.43% (10/14) of patients with 45,X/46,XY mosaicism exhibited AZF microdeletions[9]. Pan et al detected 5235 male patients with primary infertility and reported that 83.3% (5/6) patients with mosaic karyotype 45,X/46,XY had AZF deletions[11].dos Santos AP et al studied 15 patients with mosaicism and found that approximately 40% (6/15) patients with AZF deletions had mosaic karyotype 45,X/46,XY[12].The prevalence of Y chromosome microdeletions in patients with 45,X/46,XY mosaicism or its variants was different from other reports, main cause of which might was the sample size.…”

Application value of NIPT for uncommon fetal chromosomal abnormalities

“…However, the detection of fetal birth defects has gradually been popularized. More people are becoming aware that there are fetal chromosomal abnormalities other than trisomy 21, trisomy 18, and trisomy 13 [5,6] that lead to neonatal birth defects, and the prevalence rate of these other chromosomal abnormalities is rising [7]. Compared to traditional serological screening, noninvasive prenatal testing (NIPT) has been welcomed by pregnant women and clinicians for fetal chromosomal aneuploidy screening due to its high detection rate, low false positive rate, and noninvasiveness [8,9].…”

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome

“…We searched related literatures and found some research reports: 42.86% (6/14) of the mosaic patients were mosaic for a structurally abnormal chrY in 46,XY cell lines; three with Yqh-, one with a Yq deletion, one with a Yp+, and the last with a dicentric Y. Four of these patients also presented with AZF microdeletions (12). The clinical phenotype of 45,X/46,XY individuals is very broad and includes Turner females, varying degrees of genital malformations, and men with normal phenotypes (13).…”