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
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Translocation, Genetic
/
Chromosomes, Human, Pair 1
/
Chromosomes, Human, Pair 3
/
Chromosomes, Human, Pair 14
/
DNA
/
Chromosome Deletion
/
Chromosome Breakage
/
Chromosomes, Human, X
/
Chromosomes, Human, Y
/
Azoospermia
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article
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