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.
Article
en Zh
| WPRIM
| ID: wpr-287424
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Translocación Genética
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Cromosomas Humanos Par 1
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Cromosomas Humanos Par 3
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Cromosomas Humanos Par 14
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ADN
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Deleción Cromosómica
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Rotura Cromosómica
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Cromosomas Humanos X
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Cromosomas Humanos Y
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Azoospermia
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2009
Tipo del documento:
Article