Prenatal diagnosis and genetic analysis of a female fetus with 46, XX and positive SRY gene / 中华围产医学杂志

We report a case of a pregnant woman with 46,XX karyotype and positive sex-determining region on the Y chromosome ( SRY) gene and her female fetus. Ultrasound examination at 12 +6 gestational weeks indicated a thickened fetal nuchal translucency, and 46, XX with a positive SRY gene was detected in the fetus through quantitative fluorescent-polymerase chain reaction and amniotic fluid karyotype. However, the ultrasound showed that the gender of the fetus was female, which was inconsistent with the phenotype of male syndrome with 46, XX combining positive SRY gene. The fluorescent in situ hybridization (FISH) revealed that the short arm of the Y chromosome translocated to the long arm of one of the X chromosomes, namely Yp11.3-Xq28. In addition, a copy number variation at Yp11.31p11.2 copy (about 1 MB) was found by chromosomal microarray analysis, which validated the result of FISH and was consistent with the mother. After genetic counseling, the parents chose to continue the pregnancy to full term, and no abnormalities were found in the infant during the follow-up.

Analysis of Y chromosome abnormalities and azoospermia factor microdeletions in male infertility / 中华检验医学杂志

Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure.Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province.Patients were divided into three groups:spermatogenic failure group (n =1332),disadvantage pregnancy outcomes group (n =994) and adverse birth outcomes group.All patients underwent chromosomal karyotype analysis (G-banding).AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCR.The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups.Results Of the 51 cases of Y chromosome abnormalities (1.89％,51/2694),32 were (2.40％,32/1332) in the spermatogenic failure group,15 were (1.51％,15/994) in disadvantage pregnancy outcomes group and 4 were (1.09％,4/368) in adverse birth outcomes group.There was no significant difference in Y chromosome abnormalities among different groups (x2 =3.895,P ＞0.05).AZF microdeletions were detected in 10 cases (19.61％,10/51) of Y chromosome abnormalities patients with spermatogenic failure.Conclusions The incidence of Y chromosomal abnormalities in three reproductive failure groups is similar.Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiology in males with reproductive failure.