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Human Reproduction, Vol. 16, No. 1, 59-62, January 2001
© 2001 European Society of Human Reproduction and Embryology

A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility: Case report

Tao Cai1,4, Ping Yu2, Danilo A. Tagle2, David Lu3, Yiwang Chen3 and Jiahui Xia1

1 National Laboratory of Medical Genetics, Hunan Medical University, Changsha, Peoples' Republic of China, 2 Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institute of Health, Building 49, Room 3A23, 49 Convent Drive MSC 4442, Bethesda, MD 20892–4442, and 3 Veterans Affairs Medical Center and Georgetown University Medical Center, Washington, DC 20016, USA

A de novo complex chromosomal rearrangement (CCR) involving chromosomes 7, 8 and 9 in a male carrier was ascertained through his healthy wife's recurrent spontaneous abortions. Six pregnancies over eight years resulted in four spontaneous abortions and two livebirths who died perinatally due to abnormal vital signs. Cytogenetic analyses utilizing high resolution chromosome banding technique showed a deletion of band in a der(7) chromosome and an extra band inserting at 8q21.2. Another extra band was also observed at the band 9p24, but it could not be karyotypically determined. Fluorescent in-situ hybridization using chromosome 7 and 8 specific microdissected library as probes confirmed the insertion of a segment from the translocated chromosome 7 into a chromosome 8, and additionally revealed a translocation between chromosomes 7 and 9. The karyotype of the CCR carrier was determined as 46,XY,t(7;9)(q22;p24),ins(8;7)(q21.2;q22q32).ish der(9)(wcp7+);ins(8;7)(wcp8+,wcp7+). Comparing with previously reported male CCR carriers with our case, we conclude that male CCR carriers may not always present with infertility or subfertility phenotypes. This may suggest that rare transmission of male carriers could result from abnormal chromosomal rearrangements during meiosis and gametogenesis in addition to frequent infertility.

Key words: carrier/complex chromosomal rearrangement/infertility/male

4 To whom correspondence should be addressed at: Experimental Medical Section, NIDCR, NIH, Building 30, Room 112,30 Convent Dr. MSC 4322, Bethesda, MD 20892–4322 USA. E-mail: tao.cai{at}nih.gov


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