Genetic analysis of a complex chromosome rearrangement involving two chromosomes and four breakpoints in an azoospermic man / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 200-202, 2009.
Artículo
en Chino
| WPRIM
| ID: wpr-287424
ABSTRACT
<p><b>OBJECTIVE</b>To perform genetic analysis of a complex chromosome rearrangement (CCR) 46,XY, t(3;11)(q27; q13), ins(11;3)(q13;p26p13) in an azoospermic man.</p><p><b>METHODS</b>Peripheral blood lymphocytes we re obtained for karyotyping, and metaphases were studied by multicolor fluorescence in situ hybridization procedure, Y chromosomal microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction.</p><p><b>RESULTS</b>The case was a complex chromosomal translocation between chromosomes 3 and 11 with four breakpoints, and accompanied with a band of chromosome 3 inserting into chromosome 11. No Y-chromosome microdeletions were identified at 6 STS sequences of the AZF loci.</p><p><b>CONCLUSION</b>CCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 1
/
Cromosomas Humanos Par 3
/
Cromosomas Humanos Par 14
/
ADN
/
Deleción Cromosómica
/
Rotura Cromosómica
/
Cromosomas Humanos X
/
Cromosomas Humanos Y
/
Azoospermia
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2009
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS