[Genetic analysis of a complex chromosome rearrangement involving two chromosomes and four breakpoints in an azoospermic man]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):200-2. doi: 10.3760/cma.j.issn.1003-9406.2009.02.018.
[Article in Chinese]

Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: CCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Azoospermia / genetics*
  • Chromosome Breakage*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, X
  • Chromosomes, Human, Y
  • DNA / analysis
  • Humans
  • Karyotyping*
  • Male
  • Translocation, Genetic*

Substances

  • DNA