Balkan Journal of Medical Genetics

ANALYSIS OF MEIOTIC SEGREGATION PATTERNS AND INTERCHROMOSOMAL EFFECTS IN SPERM FROM 13 ROBERTSONIAN TRANSLOCATIONS
Wang B1,*, Nie B1,*, Tang D2,*, Li R3,*, Liu X1, Song J1, Wang W1, Liu Z1,** *These authors contributed equally to this study.
*Corresponding Author: Dr. Zhi Liu, Department of Clinical Laboratory, Hubei Maternal and Child Health Hospital, 745 WuLuo Road, Wuhan, Hubei, People’s Republic of China. Tel: +86-27-8716-9190. Fax: +86-27-8716-9097. E-mail: wangbo1005@163.com.
page: 43

RESULTS

The age of our patients ranged from 25 to 48 years with a mean of 38.6 years. The karyotype and sperm examination of patients and controls are given in Table 1. According to WHO criteria, all our patients, except P1, had very poor semen parameters. The karyotyping analysis identified a previously undescribed balanced human karyotype 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10) (Figure 1). Interestingly, in P1, we saw a sperm (arrow) with four fluorescence signals (two red and two green). This means the sperm has two derivative chromosomes of der(14;15), but we could not tell if the sperm was a disomy of derivative chromosome or diploid (Figure 2). In future studies, we will employ triple-color FISH (for example, the probe mixture will consist of chromosomes 14, 15 and 18) for the detection of normal/balanced or unbalanced sperm to distinguish between disomy and diploid. The results of the segregation analysis are given in Table 2 and Table 3. Among the 13 ROB translocation carriers, one was homozygous (P1). The remainder were heterozygous (P2-P13). The frequency of balanced spermatozoa was 99.7% in P1, while the frequency of unbalanced spermatozoa was 0.3%, which was similar to the controls [17-21] (Table 2). In P2-P13, the frequency of normal/balanced spermatozoa resulting from alternate segregation varied between 70.4 and 85.2%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 14.8 and 29.6%. The frequency of unbalanced spermatozoa was significantly higher than P1 and the controls (p <0.05). To evaluate the occurrence of ICE, the nullisomy, disomy and diploid frequencies for chromosomes 18, X and Y are summarized in Table 3. Increased frequencies of aneuploidy for a sex chromosome were observed in 10 ROB translocation carriers (P2-P8, P10-P12), Increased frequencies of aneuploidy for chromosome 18 were observed in 10 ROB translocation carriers (P3-P9, P11-P13). In addition, increased frequencies of diploid were found in 11 ROB translocation carriers (P2-P9, P11-P13). Increased frequencies of unbalanced sperms were found in heterozygous carriers (P2-P13). In contrast, no ICE was detected in P1.

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