Human Reproduction, Vol. 17, No. 2, 325-331,
February 2002
© 2002 European Society of Human Reproduction and Embryology
Sperm analysis by FISH in a case of t(17; 22) (q11; q12) balanced translocation: Case report
1 Laboratoire de Cytogénétique, Faculté de Médecine, Place Henri Dunant, 63000 Clermont-Ferrand and 2 Laboratoire de Biologie de la Reproduction et du Développement et CECOS, Hôtel-Dieu, Boulevard Léon Malfreyt, 63058 Clermont-Ferrand, France
Individual sperm from men with balanced translocations have different chromosomal contents. Thus, an estimation of the overall sperm chromosomal imbalance of such patients could help to give the couple an adapted genetic counselling. We report here the study of a balanced translocation carrier, t(17;22) (q11;q12) whose reproductive history reported four miscarriages. Moreover, he had an abnormal semen analysis with oligoteratozoospermia. The meiotic segregation pattern was examined in 700 sperm, using fluorescence in-situ hybridization (FISH). Nineteen percent of the sperm had balanced translocations or were normal. All other sperm were unbalanced (81%) and their distribution was observed as follows: the frequencies of adjacent 1, adjacent 2 and 3:1 segregations were 12.9, 5.8 and 46.8% respectively. Among the segregations scored, 13.7% were related to second meiotic division abnormalities. Less than 2% of the total sperm scored were not explained. The 3:1 segregation was present at a very high rate, which is very unusual. In cases of balanced translocations, we believe that no general features can be drawn. Thus, the FISH technique may be very helpful for genetic counselling, which remains an important step and must be done with care.
Key words: balanced translocation/chromosome segregation/FISH/sperm
3 To whom correspondence should be addressed at: E-mail: ageneix{at}chu-clermontferrrand.fr
Submitted on February 22, 2001; resubmitted on July 2, 2001
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