Sperm sex chromosome analysis and preimplantation genetic diagnosis of patients with sex chromosome anomalies.
- Author:
Yan-wen XU
1
;
Xiu-lian REN
;
Can-quan ZHOU
;
Hui-ping LI
;
Yin LIU
;
Min-fang ZHANG
;
Guang-lun ZHUANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosomes, Human, X; genetics; Chromosomes, Human, Y; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Male; Preimplantation Diagnosis; methods; Sex Chromosome Aberrations; Spermatozoa; metabolism
- From: Chinese Journal of Medical Genetics 2006;23(4):431-433
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the constitution of abnormal spermatozoa from patients with sex chromosome anomalies.
METHODSTriple 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.
RESULTSAn 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.
CONCLUSIONUsing 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.
