AIM: To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes. METHODS: G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs. RESULTS: 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. CONCLUSIONS: The small supernumerary marker chromosome could play a causative role in male infertility although the mechanism remains to be elucidated.
AIM: To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes. METHODS: G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs. RESULTS: 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. CONCLUSIONS: The small supernumerary marker chromosome could play a causative role in male infertility although the mechanism remains to be elucidated.
Authors: G R Dohle; D J J Halley; J O Van Hemel; A M W van den Ouwel; M H E C Pieters; R F A Weber; L C P Govaerts Journal: Hum Reprod Date: 2002-01 Impact factor: 6.918
Authors: A Forus; D O Weghuis; D Smeets; O Fodstad; O Myklebost; A Geurts van Kessel Journal: Genes Chromosomes Cancer Date: 1995-09 Impact factor: 5.006