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

• DOI: 10.1007/s10815-009-9310-1
• Publication Date: 2009-05-13T10:25:38Z
• Authors: Wei Wang; Yali Hu; Haiyan Zhu; Jie Li; Ruifang Zhu; Ya-ping Wang
• Keywords: Marker chromosome

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.