Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocytes

Abstract

We present a case of a 46,XY der(13;14) Robertsonian translocation carrier whose spermatozoa were karyotyped after injection into mouse oocytes. Fresh semen samples as well as recovered samples were used. There was no significant difference in the survival rate of mouse oocytes (fresh: 78.1% versus frozen: 81.7%), activation rate (fresh: 84.0% versus frozen: 90.6%), fertilization rate (fresh: 72.0% versus thawing of frozen: 76.5%) between fresh or frozen spermatozoa. Metaphase chromosome spreads from 45 spermatozoa were analysed. The frequency of spermatozoa that were chromosomally unbalanced with respect to the translocation was 8.9%, and the frequency of abnormalities unrelated to translocation was 4.4%. An excess of spermatozoa with balanced chromosomes was observed: compared with normal, 23 (51.1%) versus 16 (35.6%) respectively; but this segregation difference was not statistically significant (chi(2) = 0.9, P > 0.3). After genetic counselling with the carrier and his partner, intracytoplasmic sperm injection treatment was performed. Healthy female and male infants were delivered at 36 weeks gestation via a Caesarean section. Both babies were carriers for the balanced Robertsonian translocations detected for prenatal diagnosis at 16 weeks gestation. The present study demonstrates that patients can be given further information about the proportion of the spermatozoa which carry a chromosomal abnormality.

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

“…The (13;14) translocation is the most prevalent; however, other ROBs [t(14;21), t(15;22), t(21;22)] have also been reported, including one observation of a (13;15) translocation. As observed in our study, alternate segregation has been the most frequently described, ranging from 74% in a t(13;14) (Martin 1988) to 96% in a t(21;22) (Syme and Martin 1992) after human-hamster system and 86.7% in a t(13;14) (Ogawa et al 2000) by sperm injection into mouse oocytes. Unbalanced gametes have been observed with various frequencies, reaching the maximum value of 26% in one study [t(13;14); Martin 1988).…”

Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14)

“…Three different techniques were used for the study of meiotic segregation in these different studies. The two first studies [13,16] were performed by the human-hamster inter-specific fertilization system, the third one [17] was performed by the injection of human sperm into mouse oocytes and the rest of studies used the FISH technique [9,11,14,15]. The rate of balanced gametes varied for the seven studied patients from 73.50% [16] to 92.30% [13].…”

Apoptosis and meiotic segregation in sperm from men with chromosomal translocations

“…Les resultats publies pour 11 translocations Robertsoniennes (13;14) ont montre des taux de desequilibre chromosomique variant de 6% & 26,4% [6,7,17,19,20,21]. Trois translocations (13; 14) ont 6t6 6tudi6es par fecondation in vitro heterospecifique [17,20,21].…”

“…Trois translocations (13; 14) ont 6t6 6tudi6es par fecondation in vitro heterospecifique [17,20,21]. Le faible nombre de spermatozoi"des analyses au total pour ces trois etudes (n = 240) et le biais de la selection de spermatozo'(des f6condants pour la fecondation in vitro ne permettent pas de donner une observation exacte de la segregation meiotique.…”