Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY/+8 male by means of multicolour fluorescent in situ hybridization : confirmation of a mosaicism and evaluation of risk for offspring

摘要: Trisomy 8 is generally associated with chromosomal mosaicism and occurs de novo, relatively well-defined clinical manifestations, ranging from minimal effects to severe malformations. Mosaicism often difficult ascertain the confirmation of diagnosis requires several investigations on a variety tissues. We present case mosaic trisomy fortuitously found in healthy 30-year-old man during cytogenetic investigation for spontaneous abortions: 8% lymphocyte metaphases showed 47,XY,+8 karyotype. Fluorescent situ hybridization (FISH) probes pJM.128 L1.84 was performed decondensed interphase spermatozoa. Of 25 000 analysed cells, 398 spermatozoa (1.59%) exhibited pattern compatible chromosome disomy; frequency higher than either sperm control populations (0.17% 0.21%). This result agreement existence gonads germ cells. FISH spreads thus an easy non-invasive procedure that can be used complement tissue other blood. Moreover, provides interesting data characterizing risk offspring.