Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization and FISH.
Reprod Biomed Online
; 29(4): 499-508, 2014 Oct.
Article
en En
| MEDLINE
| ID: mdl-25154015
ABSTRACT
Complex chromosomal rearrangements (CCR) represent rare structural chromosome abnormalities frequently associated with infertility. In this study, meiotic segregation in spermatozoa of an infertile normospermic carrier of a 4-breakpoint t(1;3;6) CCR was analysed. A newly developed array comparative genomic hybridization protocol was used, and all chromosomes in 50 single sperm cells were simultaneously examined. Three-colour FISH was used to analyse chromosome segregation in 1557 other single sperm cells. It was also used to measure an interchromosomal effect; sperm chromatin structure assay was used to measure chromatin integrity. A high-frequency of unbalanced spermatozoa (84%) was observed, mostly arising from the 33 symmetrical segregation mode. Array comparative genomic hybridization was used to detect additional aneuploidies in two out of 50 spermatozoa (4%) in chromosomes not involved in the complex chromosome rearrangement. Significantly increased rates of diploidy and XY disomy were found in the CCR carrier compared with the control group (P < 0.001). Defective condensation of sperm chromatin was also found in 22.7% of spermatozoa by sperm chromatin structure assay. The results indicate that the infertility in the man with CCR and normal spermatozoa was caused by a production of chromosomally unbalanced, XY disomic and diploid spermatozoa and spermatozoa with defective chromatin condensation.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Espermatozoides
/
Translocación Genética
/
Reordenamiento Génico
/
Segregación Cromosómica
/
Puntos de Rotura del Cromosoma
/
Trastorno del Desarrollo Sexual 46,XY
Tipo de estudio:
Etiology_studies
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Reprod Biomed Online
Asunto de la revista:
MEDICINA REPRODUTIVA
Año:
2014
Tipo del documento:
Article