A Rare De novo Complex Chromosomal Rearrangement (CCR) Involving Four Chromosomes in An Oligo-asthenosperm Infertile Man
Complex chromosomal rearrangements (CCRs) are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of var...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Royan Institute (ACECR), Tehran
2014-04-01
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| Series: | Cell Journal |
| Subjects: | |
| Online Access: | http://celljournal.org/library/upload/article/af_333444643267324432534662425573824374353218-Saba%20Asia-phone.pdf |
| Summary: | Complex chromosomal rearrangements (CCRs) are rare events involving more than
two chromosomes and over two breakpoints. They are usually associated with infertility
or sub fertility in male carriers. Here we report a novel case of a CCR in a
30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes
size and normal endocrinology profile referred for chromosome analysis to the
Genetics unit of Royan Reproductive Biomedicine Research Center. Chromosomal
analysis was performed using peripheral blood lymphocyte cultures and analyzed
by GTG banding. Additional tests such as C-banding and multicolor fluorescence in
situ hybridization (FISH) procedure for each of the involved chromosomes were performed
to determine the patterns of the segregations. Y chromosome microdeletions
in the azoospermia factor (AZF) region were analyzed with multiplex polymerase
chain reaction. To identify the history and origin of this CCR, all the family members
were analyzed. No micro deletion in Y chromosome was detected. The same de novo
reciprocal exchange was also found in his monozygous twin brother. The other siblings
and parents were normal. CCRs are associated with male infertility as a result
of spermatogenic disruption due to complex meiotic configurations and the production
of chromosomally abnormal sperms. These chromosomal rearrangements might
have an influence on decreasing the number of sperms. |
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| ISSN: | 2228-5806 2228-5814 |