[Sperm sex chromosome analysis and preimplantation genetic diagnosis of patients with sex chromosome anomalies].
OBJECTIVE
To investigate the constitution of abnormal spermatozoa from patients with sex chromosome anomalies.


METHODS
Triple color fluorescence in situ hybridization (FISH) was used to determine the sex chromosome constitution of spermatozoa from three patients with sex chromosome anomalies (case 1:46,XY/47,XXY, case 2:45,XO/46,X,Yqh-, case 3:47,XXY). The preimplantation genetic diagnosis (PGD) was performed to case 2.


RESULTS
An increased ratio (2.05 vs 1) of X-bearing to Y-bearing spermatozoa was only observed in case 2, who also had an increased incidence of total abnormal spermatozoa (29.71%). An increased incidence of total abnormal spermatozoa (4.91%) was also observed in case 3. Among the constitution of abnormal spermatozoa, case 2 had the increased proportions of XY18 disomy, O18 monosomy and XO monosomy, while case 3 had an increase proportion of XY18 disomy (1.87%). PGD was performed to case 2 and one embryo with XX1818 was selected for implanting.


CONCLUSIONS
Using FISH to detect the sperm sex chromosomes in patients with sex chromosome anomalies can provide the useful information to evaluate the risk of sex chromosome anomalies in preimplantation embryos.
Xu
Yan-wen
YW
Reproductive Research Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P. R. China.
Ren
Xiu-lian
XL
Zhou
Can-quan
CQ
Li
Hui-ping
HP
Liu
Yin
Y
Zhang
Min-fang
MF
Zhuang
Guang-lun
GL
D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D019836:Preimplantation Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000378:metabolism*