High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46, XY mosaicism
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;53(3): e8980, 2020. tab
Article
在 En
| LILACS
| ID: biblio-1089344
Responsible library:
BR1.1
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.
Key words
全文:
1
索引:
LILACS
主要主题:
Sex Chromosome Disorders of Sex Development
/
Infertility, Male
/
Mosaicism
研究类型:
Risk_factors_studies
限制:
Adult
/
Humans
/
Male
国家/地区名称主题:
Asia
语言:
En
期刊:
Braz. j. med. biol. res
/
Rev. bras. pesqui. méd. biol
期刊主题:
BIOLOGIA
/
MEDICINA
年:
2020
类型:
Article