A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin

作者：Wang Wei; Hu Yali; Zhu Haiyan; Li Jie; Zhu Ruifang; Wang Ya ping^*

来源：Journal of Assisted Reproduction and Genetics, 2009, 26(5): 291-295.

DOI：10.1007/s10815-009-9310-1

• Infertility
• Small supernumerary chromosome
• M-FISH
• Heterochromatin

To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes.
G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs.
The karyotype of this patient was established as 47, XY, +mar/46, XY. C-banding showed that the marker chromosome was composed of heterochromatin without visible euchromatic material. No positive result was obtained in STRP, M-FISH and the microdeletion analysis of Y- chromosome.
The small supernumerary marker chromosome could play a causative role in male infertility although the mechanism remains to be elucidated.

• 出版日期2009-5
• 单位南京大学