Full text of DOI:10.1093/molehr/7.5.483

Molecular Human Reproduction Vol.7, No.5 pp. 483–488, 2001
FISH analysis of the chromosomal status of spermatozoa
from three men with 45,XY,der(13;14)(q10;q10) karyotype
Fre´de´ric Morel, Christophe Roux1 and Jean-Luc Bresson
´ ´
´
´
Service de Cytogenetique-Immunocytologie-Biologie du Developpement et de la Reproduction, CECOS Besanc¸on, Franche-Comte,
´ ´
Centre Hospitalier Universitaire Saint Jacques, EA3185: genetique et Reproduction, 25030 Besanc¸on, France
1To whom correspondence should be addressed. E-mail: christophe.roux@ufc_chu.univ_fcomte.fr
Meiotic segregation of chromosomes 13 and 14 was studied in the ejaculated spermatozoa of three men carrying a
translocation der(13;14)(q10;q10). The spermatozoa of these patients and of a donor with a normal 46,XY karyotype
(control) were analysed by two-colour fluorescent in-situ hybridization (FISH) with specific chromosomal painting
of chromosomes 13 and 14, by two-colour FISH detecting chromosomes 18 and 21 and by triple-colour FISH for
chromosomes X, Y and 8. For patients 1, 2 and 3, respectively, 81.34, 82.60 and 88.90% of the analysed nuclei
showed normal or balanced chromosomal status, resulting from the alternate segregation of the translocation. The
rates of spermatozoa with an unbalanced status (disomy and nullisomy, 13 or 14) resulting from the adjacent mode
of segregation were estimated respectively at 18.06, 16.32 and 10.80 (for patients 1, 2 and 3). Additional colour
FISH analysis with probes specific for chromosomes X, Y, 8, 18 and 21 showed a significant increase in some disomy
frequencies (8, 18, 21, X and Y for patient 1, only 18 for patient 2) in comparison with the control. These results
would seem to indicate an interchromosomal effect.
Key words: fluorescence in-situ hybridization/interchromosomal effect/meiotic segregation/spermatozoa/13;14 translocation
Introduction
(Johannisson et al., 1993; Gabriel-Robez and Rumpler,
1996), this association could lead to gametogenic arrest for
Robertsonian translocation carriers. Luciani et al. observed
that the trivalent was always in the cis configuration and
suggested that this cis configuration of the 13;14 trivalent
promotes an alternate segregation which should produce an
equal frequency of normal and balanced spermatocytes (Luciani
et al., 1984). These data obtained by the analysis of spermato-
cytes seem to be in agreement with the results provided by a
family study of carriers of t(13;14) (Dutrillaux and Lejeune,
1970) showing a similar number of normal offspring and
carriers of the balanced translocation. On the other hand, some
studies have indicated an excess of offspring carrying the
balanced translocation (Hamerton, 1970; Boue´ and Gallano,
1984).
The results of the meiotic segregation of these translocations
have also been analysed by karyotyping spermatozoa after
penetration of zona-free hamster oocytes (Pellestor et al., 1987;
Martin, 1988) or by injection of human spermatozoa into
mouse oocytes (Ogawa et al., 2000), although these data
are limited.
Although fluorescent in-situ hybridization (FISH) can be
used to analyse a large number of spermatozoa (Downie et al.,
1997; Guttenbach et al., 1997; Morel et al., 1997), for purely
technical reasons due to the fact that centromeric probes 13cen,
Robertsonian translocations are common in man with an
approximate incidence of 1 in 1000 births (Evans et al., 1978),
and translocation (13;14) is one of the most frequent. This
translocation can occur de novo or be transmitted by one of
the parents. In the latter case, the risk of free 21 trisomy by
interchromosomal effect is 5%. Men carrying this translocation
have a normal phenotype, but can have problems of infertility
associated with more or less severe oligozoospermia. Neverthe-
less, when these men have offspring, the children generally
have a chromosomal status which is either normal (46,XX or
46,XY) or balanced [45,XX,der(13;14)(q10;q10) or 45,XY,der
(13;14)(q10;q10)] (Friedrich and Nielsen, 1974). During pre-
natal diagnosis in 230 pregnancies in which one of the parents
was a carrier of this translocation, no unbalanced offspring
were found (Boue´ and Gallano, 1984). This suggests that there
is very early loss of potentially unbalanced fetuses.
The studies evaluating the risks of imbalances in the
chromosomal status of spermatozoa of 45,XY,der(13;14)(q10;
q10) men with disorders of spermatogenesis were initially
studies of meiotic cytogenetics on testicular biopsies (Vidal
et al., 1982; Luciani et al., 1984). An association of trivalent
and sex vesicle in the majority of the nuclei at the pachytene
stage in a sterile man carrying a translocation t(13;14) has
been shown (Luciani et al., 1984). According to two studies
© European Society of Human Reproduction and Embryology
483

F.Morel, C.Roux and J.-L.Bresson
Table I. Semen parameters of the three 45,XY,der(13;14)(q10;q10) patients
Age
(years)
Volume
(ml)
Sperm
Motility
(%)
Abnormal
morphology
(%)
Necrozoospermia
(%)
concentration
(ϫ106/ml)
Patient 1
Patient 2
Patient 3
28
34
41
7
5
5
40.64
2.7
0.5
5–10
35–40
8
64
94
77
45–50
40–45
–
a
aNot performed.
for the centromeric regions of chromosome X (DXZ1; M.Morris,
Geneva, Switzerland) and of chromosome 8 (pJM128; American Type
Culture Collection, Rockville, MA, USA) and for the heterochromatin
region of chromosome Y (pHY2.1; J.H.Cooke, Edinburgh) (Cooke
et al., 1982).
21cen or 14cen, 22cen indistinctly detect the centromere of
chromosomes 13 and 21 or 14 and 22, there are still very few
studies of this kind (Rousseaux et al., 1995; Honda et al.,
2000). The studies (Rousseaux et al., 1995; Honda et al.,
2000) carried out with specific probes for subtelomeric regions
of chromosomes could not differentiate normal or balanced
spermatozoa. To avoid the above problems, we have used
specific chromosomal painting of chromosomes 13 and 14 to
differentiate the normal spermatozoa (two signals of different
colour separated by at least one diameter) or balanced spermato-
zoa (two signals of different colour coupled one with the
other) (Figure 1).
Hybridization procedure and analysis
Hybridization procedure and analysis have been described previously
(Mercier et al., 1996, 1998; Morel et al., 1999, 2000). Slides were
included for scoring if the efficiency of hybridization was Ͼ95%. If
the efficiency was lower, the results of FISH analysis would not be
reliable. Nuclei without a fluorescent signal, either nullisomic nuclei
for the analysed chromosomes or non-hybridized nuclei resulting
from technical failure, were not included in our study. In two-colour
FISH 13–14, spermatozoa with two signals of different colours (red
for chromosome 13 and green for chromosome 14), separated by at
least one diameter were considered as normal, with one chromosome
13 and one chromosome 14. Spermatozoa with two signals of different
colours coupled one with the other, associated with a central yellow
signal (visualized by the association of the two fluorescence signals),
were considered as balanced with der(13,14). Subsequent image
acquisition using a CCD camera with digital image enhancement was
performed (Cytovision; Applied Imaging).
This study presents the results obtained on the ejaculated
spermatozoa of three men with 45,XY,der(13;14)(q10;q10)
karyotype.
Materials and methods
Cytogenetic analysis
Robertsonian translocations were found for patient 1 when his child
was born with a mosaic 8 trisomy syndrome and with a 45,XY,der(13;
14)(q10;q10)/46,XY,ϩ8,der(13;14)(q10;q10) karyotype, and for
patients 2 and 3, when they sought advice for infertility.
Statistical analysis
An independent χ2-test was used to compare the results obtained for
spermatozoa from the three 45,XY,der(13;14)(q10;q10) patients and
those observed in the control spermatozoa.
Translocation carriers and sperm characteristics
The characteristics of the three analysed ejaculates were different:
asthenonecroteratozoospermia for patient 1, severe oligoteratozoo-
spermia and necrozoospermia for patient 2, and very severe oligo-
asthenozoospermia and teratozoospermia for patient 3 (Table I). A
fertile man with a normal 46,XY karyotype and normal sperm
characteristics (World Health Organization, 1999) was used as the
control. Prior to this study, patients were informed of the investigations
and gave their consent. This study was reviewed by the ethics
committee of Besanc¸on University Hospital.
Results
Using two-colour FISH 13–14, 2984 (patient 1), 1109 (patient
2), 1009 (patient 3) and 10 019 (control) spermatozoa were
analysed. For patients 1, 2 and 3 respectively, 81.34, 82.60
and 88.90% of the analysed nuclei showed normal or balanced
chromosomal status, resulting from the alternate segregation
of the translocation (Table II). The proportion of spermatozoa
with unbalanced status (disomy and nullisomy for chromo-
somes 13 or 14) resulting from the adjacent mode of segregation
were estimated at 18.06, 16.32 and 10.80% for patients 1, 2
and 3 respectively.
When only FISH probes for chromosomes 13 and 14 are
used, it is not possible to differentiate between 3:0 or diploid
cells. Thus the analysed cells resulting from either segregation
3:0 or diploid cells accounted for 0.6, 1.08 and 0.30% of
spermatozoa for patients 1, 2 and 3 respectively (Table II).
The percentages of 13 and 14 disomies, for control
spermatozoa, were estimated at 0.25 and 0.16% respectively
and the diploidies were estimated at 0.12%.
Analysis of aneuploidy
Sperm preparation
The procedure has been described elsewhere (Morel et al., 1997).
Each semen sample was washed twice in phosphate-buffered saline,
and 100 µl of sperm suspension was dropped and fixed onto the
slide. Sperm nuclei were lightly decondensed for 1 min with a
solution of 1 mol/l NaOH.
Molecular DNA probes
The sperm status of these patients and of a donor with a 46,XY
normal karyotype (control) was analysed firstly by two-colour FISH
with specific chromosomal painting of chromosomes 13 (P5613-RW;
Appligene Oncor, Illkirch, France) and 14 (P5614-GW; Appligene
Oncor), secondly by two-colour FISH with painting probes (P5618-
RW and P5621-GW; Appligene Oncor) for chromosomes 18 and 21
(respectively) and thirdly by triple-colour FISH using DNA probes
Using two-colour FISH 18–21 (Table III), there was an
484

Meiotic segregation of a 13;14 translocation
Figure 1. Spermatozoa from a t(13;14) carrier, hybridized with P5613-RW (chromosome 13, red) and P5614-GW (chromosome 14, green).
(a) Nucleus with normal chromosome status (alternate segregation). (b) Nucleus with balanced chromosome status (alternate segregation).
(c and d) Nuclei with abnormal chromosome status (adjacent segregation).
Table II. Results from two-colour fluorescent in-situ hybridization 13–14 for the analysis of the chromosomal status in spermatozoa of the three
45,XY,der(13;14)(q10;q10) patients and the control
Combinations
Meiotic
segregation
Patient 1
(%)
Sum
Patient 2
(%)
Sum
Patient 3
(%)
Sum
Control
13q/14q
der(13q;14q)
Sum
Alternate
Alternate
38.21
43.13
40.76
41.84
44
44.9
81.34
82.60
88.90
13q/der(13q;14q)
14q
14q/der(13q;14q)
13q
Adjacent
Adjacent
Adjacent
Adjacent
3.08
6.1
3.82
5.06
1.89
4.51
4.15
5.77
2.67
3.67
1.68
2.78
Disomy 13 0.25
Disomy 14 0.16
Sum
18.06
0.60
16.32
1.08
10.80
0.30
13q/14q/der(13q;14q)
Sum
3:0 or diploidies
0.60
1.08
0.30
0.12
No. of spermatozoa
2984
1109
1009
10 019
tions (Table V). By heterospecific fertilization, six studies
(Balkan and Martin, 1983; Pellestor et al., 1987; Martin, 1988;
Pellestor, 1990; Martin et al., 1992; Syme and Martin, 1992),
and only one study by sperm injection into oocytes (Ogawa
et al., 2000), have been reported. For the different Robertsonian
translocations (13–14, 13–15, 14–21, 15–22 or 21–22), the
results show a prevalence of the alternate mode of segregation
from 73.5% (out of 117 analysed karyotypes) (Martin, 1988)
to 96.6% (out of 149 karyotypes) (Syme and Martin, 1992).
The rate of unbalanced gametes varies for the seven studied
patients from 2.7 to 26.5%, and only one spermatozoa resulting
from the segregation mode 3:0 has been observed (Syme and
Martin, 1992).
None of the studies showed an increase in the rates of
numerical and structural chromosomal abnormalities in these
patients carrying a Robertsonian translocation, when compared
to the rates observed in the control patients with normal 46,XY
karyotype. Therefore these results would seem to indicate that
there is not an interchromosomal effect.
Table III. Results from two-colour fluorescent in-situ hybridization 18–21
for the analysis of the chromosomal status in spermatozoa of the control
and of the three 45,XY,der(13;14)(q10;q10) patients
Disomy 18
(%)
Disomy 21
(%)
Diploidy
(%)
No. of
spermatozoa
Patient 1
Patient 2
Patient 3
Control
0.77a
0.78a
0.30
0.19
0.80a
0.49
0.40
0.33
0.83a
0.88a
0.10
0.09
3001
1025
1007
10 082
aP Ͻ 0.05 versus control.
increased incidence of chromosome 18 and 21 disomies
(patient 1) and 18 disomies (patient 2) when compared with
those estimated in the control. Triple-colour FISH X-Y-8
(Table IV) showed a significant increase in XX, YY and
chromosome 8 disomy frequencies (patient 1) compared to
the control.
Discussion
Only three studies have used FISH to analyse the sperm
nuclei of Robertsonian carriers: two for t(14q;21q) men
(Rousseaux et al., 1995; Honda et al., 2000) and one for t(21q;
To our knowledge, few data are available on the chromosomal
status in spermatozoa of men carrying Robertsonian transloca-
485

F.Morel, C.Roux and J.-L.Bresson
Table IV. Results from three-colour fluorescent in-situ hybridization X-Y-8 for the analysis of the chromosomal status in spermatozoa of the control and of
the three 45,XY,der(13;14)(q10;q10) patients
Presumed
karyotype
% 23,
X
% 24,
XX
% 46,
XX
% 24,
No. of
spermatozoa
Y
YY
XY
YY
XY
X/Yϩ8
Patient 1
Patient 2
Patient 3
Control
48.02
50.24
49.12
50.20
48.67
48.36
50.57
49.24
0.20a
0.10
–
0.60a
0.10
–
0.23
0.20
0.1
0.13a
–
–
–
0.26a
–
–
–
0.69a
0.50a
–
1.21a
0.50
0.21
0.23
3055
1005
969
0.04
0.06
0.13
0.10
10 021
aP Ͻ 0.05 versus control.
Table V. Recapitulation of molecular studies of the chromosomal status in the spermatozoa of Robertsonian translocation carriers by heterospecific
fertilization or fluorescent in-situ hybridization (FISH)
Translocation
Age
(years)
No. of
spermatozoa
studied
Segregation mode
Alternate
Diploid
cells
3:0
Ambiguous
and/or non-
hybridization
References
Adjacent
Normal
Balanced
t(14q;21)a
24
78
117
67
115
149
45
1116
350
16 578
70.8
50
16.7
42.3
37.6
43.3
47
12.5
7.7
26.5
10.4
10.4
2.7
8.9
18.01
36
0
0
0
0
0
0.7
0
Balkan and Martin (1983)
Pellestor et al. (1987)
Martin (1988)
t(13;14)(p11;q11)a
t(13q;14q)a
41
23
40
35
52
32
34
54
32
35.9
46.3
42.6
49.6
37.77
t(13;15)(p11;q11)a
t(15q;22q)a
Pellestor (1990)
Martin et al. (1992)
Syme and Martin (1992)
Ogawa et al. (2000)
Rousseaux et al. (1995)
Mennicke et al. (1997)
Honda et al. (2000)
t(21q;22q)a
47
53.33
t(13q;14q)b
t(14q;21q)c
72.22
0.8
8.97
4
0.15
t(21q;22q)c
38
22
88.42
t(14q;21q)c
11.25
0.18
aStudies by heterospecific fertilization.
bStudy by sperm injection into mouse oocyte.
cStudies by FISH.
22q) men (Mennicke et al., 1997). These studies found a
majority (60-88.42%) of sperm cells with normal or balanced
chromosomal status (Table V).
This prevalence of the alternate mode can be explained by
meiotic cytogenetic studies which indicate that the trivalent at
pachytene are always in cis configuration (Luciani et al., 1984).
The different frequencies of unbalanced spermatozoa,
resulting from the adjacent modes of segregation (estimated
at between 10.8 and 18.06%) point to an interindividual or
an intraindividual variation concerning these 45,XY,der(13;
14)(q10;q10) men. These variations have also been found from
studying heterospecific fertilization or sperm injection into
oocytes (Pellestor et al., 1987; Martin, 1988; Ogawa et al.,
2000). Moreover, such variabilities have been demonstrated
for different Robertsonian translocations, including some with
the same chromosomal pairs [translocation 14–21 (Balkan and
Martin, 1983; Rousseaux et al., 1995; Honda et al., 2000),
translocation 21–22 (Syme and Martin, 1992; Mennicke
et al., 1997)]
For our three patients, the percentages of chromosome 13
or 14 nullisomic spermatozoa were higher than those of
chromosome 13 or 14 disomic gametes (Table II). However, in
Robertsonian translocations, the adjacent modes of segregation
should theoretically involve the same rate of spermatozoa
carrying a 13 or 14 supernumerary chromosome as that of
nullisomic spermatozoa for these same chromosomes.
As previously suggested (Rousseaux et al., 1995), the
observed results could be due to an artefactual overestimation
of the nullisomies, resulting from unequal hybridization
efficiencies of both probes. Moreover, in the two studies on
For our three 45,XY,der(13;14)(q10;q10) patients, the
majority of spermatozoa analysed (from 81.34 to 88.90%)
showed a chromosomal status resulting from an alternate
mode of segregation. The frequencies of normal or balanced
spermatozoa were similar for patients 2 and 3, but were
different for patient 1, with a lower level of normal spermatozoa
and a relative excess of balanced spermatozoa. As has been
the case for most research teams, it is considered that the
chromosomal status of spermatozoa does not interfere with
their fertilizing capacity. The difference as observed in patient
1 could explain the discrepancy between the results provided
by family studies of carriers of t(13;14); some of them have
shown a similar number of normal offspring and offspring
carrying balanced translocations (Dutrillaux and Lejeune,
1970) and others revealed an excess of carriers of the balanced
translocation (Hamerton, 1970; Boue´ and Gallano, 1984).
Our results are in agreement with previous studies with
regard to the chromosome analysis of human spermatozoa
from 13;14 Robertsonian translocation carriers performed by
heterospecific fertilization (Pellestor et al., 1987; Martin, 1988)
or by using sperm injection into oocytes (Ogawa et al., 2000).
All these studies have indicated a prevalence of the alternate
mode of segregation, 73.5% out of 117 spermatozoa (Martin,
1988) and 92.3% out of 78 karyotypes (Pellestor et al., 1987).
486

Meiotic segregation of a 13;14 translocation
the 13–14 Robertsonian translocations using heterospecific
fertilization, the percentages of 13 or 14 nullisomic sperm-
atozoa were similar to those of disomic gametes.
Moreover, it seems that the higher the frequency of normal or
balanced spermatozoa, the less significant the interchromo-
somal effect.
If it is assumed that the rates of nullisomies must be identical
to those of disomies, the estimations of unbalanced spermatozoa
resulting from the adjacent mode of segregation could be
corrected to 13.8% (patient 1), 12.08% (patient 2) and 8.7%
(patient 3).
In conclusion, although this study was based on only three
cases, it suggests that, in men with 45,XY,der(13;14)(q10;
q10) karyotype, the majority of spermatozoa result from
alternate segregation. Nevertheless, a relatively large propor-
tion may have an unbalanced chromosomal status. This
raises the question of the chromosomal risk for the offspring
of 45,XY,der(13;14)(q10;q10) males and the importance of
genetic counselling prior to ICSI or IVF treatment for couples
where the male carries a Robertsonian translocation.
A small percentage of analysed spermatozoa resulted from
segregation 3:0 or are diploid cells. With two-colour FISH
13–14, it is not possible to differentiate between these two
types of cells. Only triple-colour FISH with another autosomal
probe could make this distinction, but it would involve
superpositions of fluorescent signals. However, for our three
patients, the rates of diploidies were evaluated in two-colour
FISH 18–21 and triple-colour FISH X-Y-8 at respectively 0.83
and 1.08% (patient 1), 0.88 and 0.50% (patient 2), 0.10 and
0% (patient 3). These results tend to suggest that the majority
of the cells with 13q/14q/der(13q;14q) status, estimated by
two-colour FISH 13–14, are diploid cells (Bernardini et al.,
1997; Pellestor et al., 1997; Blanco et al., 1998; Morel
et al., 1998).
Acknowledgements
The authors wish to thank the Centre d’Etude et de Conservation des
´
Oeufs et du Sperme humain, Besanc¸on – Franche Comte. They are
also grateful to Professor Cooke of the Western General Hospital of
Edinburgh (UK) and to Dr Morris of the General Hospital of Geneva
(Switzerland) for providing pHY2.1 and DXZ1. This research was
supported by the Fondation pour la Recherche Me´dicale (FRM)
and the Association Re´gionale pour le De´veloppement des Etudes
´ ´
Biologiques en Genetique et Reproduction Humaines, Centre Hos-
In triple-colour FISH X-Y-8, there was a high frequency of
chromosome 8 disomy in the spermatozoa of patient 1 (1.21%).
This frequency could possibly be explained by the fact that
this man, whose son has a mosaic chromosome 8 trisomy, is
also carrying this mosaicism, although unfortunately this
hypothesis could not be verified. Alternatively it could be
explained by the presence of an abnormally high rate of non-
segregation due to an interchromosomal effect. This latter
hypothesis is supported by the fact that there was also a
notable increase in chromosome 18, 21, XX, and YY disomies
in the spermatozoa of this patient and by the fact that there
was an increased rate of chromosome 18 disomies in the
spermatozoa of patient 2.
pitalier Universitaire, Besanc¸on.
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Received on October 27, 2000; accepted on January 29, 2001
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