Eurasian J Med 2014; 46; 220-3
The Eurasian Journal of Medicine
Case Report
Chromosomal Translocation t (10;19) (ql 1.2;q13.4) in an Infertile Male İnfertil bir Erkekte t (10;19) (q 11.2;q 13.4) Kromozomol Translokasyonu Murat Kara1, Askin Sen2, Esin Sakallı Çetin3, Kursat Kargun4 'Department of Medical "Department of Medical "Department of Medical "•Department of Medical
Genetics, Mugla Sitki Kocman University Faculty of Medicine, Mugla, Turkey Genetics, Firat University Hospital Faculty of Medicine, Elazig, Turkey Biology, Mugla Sitki Kocman University Faculty of Medicine, Mugla, Turkey Genetics Laboratory, Firat University Hospital, Elazig, Turkey
Abstract
Özet
Chrom osom al rearrangem ents are usually associated w ith male fac
Kromozom al yeniden düzenlem eler genellikle erkek in fe rtilite si
to r in fe rtility. We re p o rt here a 34-year-old man suffering from p ri
ile ilişkilidir. Bu makalede 15 yıldır p rim e r in fe rtilite şikayeti olan 34
m ary in fe rtility fo r 15 years. The cyto g en e tic analysis and investiga
yaşındaki b ir erkek hastayı sunduk. Hastaya sito g e ne tik ve Y m ikro-
tio n o f Y-chrom osom e m icrodeletions were perform ed. A reciprocal
delesyon çalışması yapıldı. S itogenetik sonucu, dengeli resiprokal
balanced translocation t (10;19) (q l 1,2;q 13.4) was fo u nd in oligozoo-
translokasyon t (10;19) (q 11.2;q13.4) görülürken, oligoazosperm ik in
sperm ic in fe rtile men w ith no Y-chrom osom e m icrodeletions. In this
fe rtil hastada Y- krom ozom m ikrodelesyon araştırması norm al olarak
case, we aim ed to evaluate th e 46,XY,t (10;19) (q 11.2;q 13.4) karyo
b u lundu. Bu olguda prim e r in fe rtilite nedeniyle g e n etik laboratuva-
type, w hich was detected th ro u g h a cyto g en e tic analysis o f a person
rımıza gö n de rile n kişiye yapılan sito g e ne tik analiz sonucunda te sp it
referred to o u r g enetic laboratory due to prim a ry in fe rtility, in th e
edilen 46,XY,t (10;19) (q11.2;q13.4) ka ryo tip i lite ra tü r ışığı altında de
lig h t o f th e literature.
ğ e rlendirm eyi amaçladık.
Keyw ords: Chrom osom al translocation, in fe rtility
A nahtar Kelimeler: Kromozom al tranlokasyon, in fe rtilite
Introduction Infertility means the inability to conceive after at least one year of unprotected intercourse. It effects around 15-20% of couples in their reproductive years [1]. Male factor infertility contributes to about 50% o f all infertility cases among which chromosomal abnormalities varies from 2.2% to 15.2% [2, 3], Robertsonian translocations and sex chromosome abnor malities are the most frequent chromosomal abnormalities in infertile men. Reciprocal translocations have been found in approximately 1% of infertile men, and are more common in azoospermic than in oligozoospermic males [4]. It is well known that chromosomal translocations in men can cause spermatogenesis failure due to meiotic impairment [5], Y-chromosome microdeletions, also an important cause of male infertility, occur in 6-8% of severely oligospermic and in 3-15% o f azoospermic men [6]. Here, according to what we know so far, this is the first report o f a reciprocal translocation t (10;19) (q 11.2;q13.4) in oligozoospermic infertile men.
Case Report The patient was a 34-year-old male, who is married for 15 years with a 32-year-old female. The urology clinic referred him to our genetic counselling clinic for a karyotype analysis for infertility. The couple was not consanguineous. His history included bilateral varicocelectomy, and his physical exami nation revealed loss o f vision in the right eye. Laboratory analyses using scrotal colour Doppler ultrasonography (USG) showed that the right testis was smaller than the left (right testis volume: 6.4cc, left testis volume: 5cc). Hormonal tests showed LH 9.97 mlU/mL (1.7-8.6), FSH 21,97 mlU/mL (1.611.0), and testosterone 1.73 ng/mL (2.18-9.05), with all other tests being normal. The spermiogram showed the number of spermatozoa in 1cc to be 100.000/mL, with a sperm m otil ity of 40% per mL. The proband had 5 brothers and 1 sister and one of his brothers was unable to conceive for 4 years. There was an attem pt of parental chromosomal analysis and siblings of the proband, however it failed as the parents and siblings lived in another city.
Received: A pril 24, 2 0 1 3 / Accepted: Decem ber 04, 2 0 1 3 / Available O nline Date: July 8, 2014 Correspondence to: Murat Kara, Department of Medical Genetics, Mugla Sitki Kocman University Faculty of Medicine, Mugla,Turkey Phone: +90 252 211 51 51 e-maii: [email protected] ©Copyright 2014 by the Atatürk University School of Medicine - Available online at www.eajm.org DOI:10.5152/eajm.2014.33
Eurasian J Med 2014; 46:220-3
Kara et al. Chromosomal Translocation and Infertile
221
Figure 2. G-banded chromosomes 10 and 19 with break points a tiO q il.2 and 19 q13.4.
Cytogenetic analysis
Results
C ytogenetic analysis was perform ed according to stan dard cytogenetic m ethods fo r karyotype analysis o f the
The male partner revealed a reciprocal translocation t
couple. The 72-hour cultured cells from peripheral blood
(10; 19) (q 11.2;q13.4) w ith break points at 10 q 11.2 and 19
w ere harvested. The tryp sin GTG banded chrom osom es
q13.4 in all examined cells (Figures 1 and 2). The female part
o f th ir ty metaphases w ere analysed according to th e
ner's karyotype was normal (46, XX). O ther fam ily members
International System fo r Human C ytogenetic Nom enclature
did not give consent for the karyotype analysis because they
(ISCN) 2005.
were living in another city. Molecular investigation did not detect any Y-chromosome microdeletions.
Investigation of Y-chromosome microdeletions For m olecular genetic analysis, m icrodeletion analysis
Discussion
was perform ed by the m ultiplex polymerase chain reaction (PCR) m ethod on DNA extracted from peripheral blood. In
Chromosomal rearrangements are observed in patients
each case 8 markers in azoospermia factor (AZF) regions were
w ith azoospermia and severe oligosperm ia in autosomal
tested: the Zinc finger Y-chromosomal protein (ZFY), sex
and sex chromosomes, or both [7]. One o f the most com
determ ining region Y (SRY), sY84, sY86 (AZFa); sY127, sY134
m only seen chromosomal aberrations is the sex chrom osome
(AZFb); sY254, sY255 (AZFc).
aneuploidies, w hich is also known as Klinefelter's syndrome,
222
Kara et al. Chromosomal Translocation and Infertile
(47, XXY karyotype) [8]. The percentage o f infertile men is
Eurasian J Med 2014; 46: 220-3
malities and male infertility. Identification o f the carriers o f
higher since reciprocal and Robertsonian translocations are
chromosomal anomalies may reveal the cause o f in fe rtility
observed at 0.5-1/1000 in the newborns among the gen
and fetal losses in married couples. Chromosomal analysis and Y-microdelection screening are recom m ended when
eral population [9]. Spermatogenesis is negatively affected because o f such irregularities in the chrom osom e and lead
poor sperm production is suspected in male patients. In
ing to the form ation o f unbalanced gametes. Therefore, it is very im portant to determ ine the underlying genetic factors
couples w ho adm itted to visit genetic counselling clinics for infertility, it is im p o rta n t to diagnose infertility, identify the
in male infertility. In fe rtility cases associated w ith balanced
factors underlying infertility, and plan the treatm ent pro
translocations form ed by different chromosomes such as t
cess accordingly. Therefore, when numerical or structural
(13; 19), t (3;5), t (9; 11), t (7; 16), t (6,12), t (8;13), t (18;21) were
chromosomal anomalies are found in the patient, genetic
reported [5,10-14], To th e best o f our knowledge, this is the
counselling should be offered to the patient to g e th e r w ith
first report in the literature o f balanced non-robertsonian
a recom m endation o f pre-im plantation genetic diagnosis
reciprocal autosom al translocation t (10; 19) (q 11.2;q13.4)
(PGT) and amniosyntesis or chorionic villus sam pling for prenatal genetic diagnosis. The person, w ho was identified
associated w ith male infertility. Translocations behave uniquely because o f the chro
as having reciprocal translocations, is very im p o rta n t for the
mosomes involved in the reorganization, the size o f the
calculation o f the risks o f its transmission to the unborn baby,
translocated and th e in te rstitia l segments, and th e pres
if conception occurs after the treatm ent. To predict the risk o f passing a genetic condiriton to future generations, cytoge
ence or absence o f recom bination loci [15]. D epending on w hether reciprocal translocations are present in a balanced or in an unbalanced form , th e y have d iffe re n t effects on car
netic analysis and genetic counselling have to be perform ed in cases o f male infertility.
riers. Generally, carriers o f unbalanced reciprocal transloca tio n have p henotyp ic consequences o f m ental retardation and physical problem s. Balanced form s do n o t have any phenotypic effect on th e carriers, b u t these individuals are associated w ith reproductive problem s such as in fe rtility, repeated miscarriages and m alform ed offsprings due to chrom osom ally unbalanced gametes [4], The mechanism o f reciprocal translocation in male in fe rtility is n o t understood so far. The reorganization o f g enetic m aterial w ith recipro cal translocation may alter th e norm al progress o f meiosis in tw o ways. First, th e quad riva le n t form o f translocated
Informed Consent: W ritten informed consent was obtained from patients'parents who participated in this case. Peer-review: Externally peer-reviewed. Author Contributions: Concept - M.K., A.S.; Design - M.K., E.S.C.; Supervision - M.K.; Funding - K.K.; Materials - A.S., K.K.; Data Collection and/or Processing M.K., K.K.; Analysis and/or Interpretation -M.K., A.S.; Literature Review - E.S.C.; W riting - M.K., E.S.C.; Critical Review - M.K., E.S.C. Conflict of Interest: No conflict o f interest was declared by the authors.
chrom osom es and th e ir hom ologous can segregate in d if ferent ways durin g meiosis and this m e io tic segregation is unique fo r each translocation carrier. Several factors such
Financial Disclosure: The authors declared that this case has received no financial support.
as th e size o f th e intestinal and translocated segments, the m orphological characteristics o f th e rearranged ch ro m o somes and th e d is trib u tio n pattern o f chiasmata during metaphase I (Ml) are said to be d e te rm in a n t in th e p ro p o r tio n o f balanced and unbalanced gametes, w hich affect the final frequencies o f norm al and aberrant gametes [12, 16].
References 1.
2.
The oth e r way is th e increase o f th e a n euploidy frequencies o f oth e r chrom osom es th a t are n o t related to th e rearrange m ent. W hile sperm c o u n t is inversely correlated w ith the
3.
frequency o f contact, oogenesis is relatively preserved in th e presence o f such chrom osom al aberrations as seen in num ber o f fam ilies w ith balanced chrom osom al structural rearrangem ents associated w ith th e fem ale fe rtility [17], A
4.
significant lim ita tio n o f this case re p o rt is the non-availabil ity o f karyotype in o th e r fa m ily members. In conclusion, the case reported in the present study supports th e relationship betw een chrom osom al abnor
5.
Perrin A, Coat C, Nguyen MH, et al. Molecular cytogenetic and genetic aspects o f globozoospermia: a review. Andrologia 2013; 45:1-9. Gekas J, Thepot F, Turleau C, et al. Chromosomal factors o f infer tility in candidate couples for ICShan equal risk o f constitutional aberrations in women and men. Hum Reprod 2001; 16: 82-90. Wiland E, Wojda A, Kamieniczna M, Szczygiel M, Kurpisz M. Infertility status of male individuals w ith abnormal spermiogram evaluated by cytogenetic analysis and in vitro sperm pen etration assay. Medical science monitor: international medical journal of experimental and clinical research 2002; 8:394-400. Van Assche E, Bonduelle M, Tournaye H, et al. Cytogenetics of infertile men. Hum Reprod 1996; 11:1-24. Venkateshwari A, Srilekha A, Begum A, et al. De novo chro mosomal translocation t(3;5)(q 13;q35) in an infertile man. Andrologia 2011; 43:428-30.
Eurasian J Med 2014; 46:220-3
6.
Walsh TJ, Pera RR, Turek PJ. The genetics of male infertility. Seminars in reproductive medicine 2009; 27:124-36.
Kara et al. Chromosomal Translocation and Infertile
223
13. Goel FI, Phadke SR. Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family. Androiogia
7.
Poongothai J, Gopenath TS, Manonayaki S. Genetics of human
14. Gu L, Zhang FI, Zhu G. Impact of reciprocal translocation t (18;
8.
male infertility. Singapore Med J 2009; 50: 336-47. Akgul M, Ozkinay F, Ercai D, et al. Cytogenetic abnormalities in 179 cases with male infertility in Western Region o f Turkey: report and review. J Assist Reprod Genet 2009;26:119-22.
an oocyte-donating ICSI cycle. J Assist Reprod Genet 2011; 28:
9.
loannou D, Griffin DK. Male fertility, chromosome abnormalities, and nuclear organization. Cytogenet Genome Res; 133:269-79.
10. Okten G KN, Tural S, Güven D, Karakuş N. The Effect Of Familial Balanced Reciprocal Tranlocation t(9;11)(p12;p11.2) to Reproductive Performance Journal o f Turkish Society of Obstetric and Gynecology 2012; 3: 173-6.
2011;43:75-7. 21) on male infertility and embryo development: lessons from 603-5. 15. Gabriel-Robez O, Rumpler Y. The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II. Robertsonian and reciprocal translocations. A European collaborative study. Annales de genetique 1996; 39:17-25.
11. Mikelsaar R, Pauklin M, Lissitsina J, Punab M. Reciprocal translo
16. Yakut T, Ercelen N, Acar H, et al. Meiotic segregation analysis
cation t(7;16)(q21.2;p13.3) in an infertile man. Fertil Steril 2006; 8 6 :719.e9-11.
o f reciprocal translocations both in sperms and blastomeres.
12. Bianco B, Christofolini D, Gava M, et al. Severe oligospermia
17. Vozdova M, Oracova E, Florinova V, et al. Sperm fluorescence
associated w ith a unique balanced reciprocal translocation
in situ hybridization study o f meiotic segregation and an inter-
t(6;12)(q23;q24.3): male infertility related to t(6;12). Androiogia
chromosomal effect in carriers of t(11;18). Plum Reprod 2008;
2011; 43:145-8.
23: 581-8.
American journal of medical genetics Part A 2006; 140:1074-82.
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The Eurasian Journal of Medicine
Case Report
Chromosomal Translocation t (10;19) (ql 1.2;q13.4) in an Infertile Male İnfertil bir Erkekte t (10;19) (q 11.2;q 13.4) Kromozomol Translokasyonu Murat Kara1, Askin Sen2, Esin Sakallı Çetin3, Kursat Kargun4 'Department of Medical "Department of Medical "Department of Medical "•Department of Medical
Genetics, Mugla Sitki Kocman University Faculty of Medicine, Mugla, Turkey Genetics, Firat University Hospital Faculty of Medicine, Elazig, Turkey Biology, Mugla Sitki Kocman University Faculty of Medicine, Mugla, Turkey Genetics Laboratory, Firat University Hospital, Elazig, Turkey
Abstract
Özet
Chrom osom al rearrangem ents are usually associated w ith male fac
Kromozom al yeniden düzenlem eler genellikle erkek in fe rtilite si
to r in fe rtility. We re p o rt here a 34-year-old man suffering from p ri
ile ilişkilidir. Bu makalede 15 yıldır p rim e r in fe rtilite şikayeti olan 34
m ary in fe rtility fo r 15 years. The cyto g en e tic analysis and investiga
yaşındaki b ir erkek hastayı sunduk. Hastaya sito g e ne tik ve Y m ikro-
tio n o f Y-chrom osom e m icrodeletions were perform ed. A reciprocal
delesyon çalışması yapıldı. S itogenetik sonucu, dengeli resiprokal
balanced translocation t (10;19) (q l 1,2;q 13.4) was fo u nd in oligozoo-
translokasyon t (10;19) (q 11.2;q13.4) görülürken, oligoazosperm ik in
sperm ic in fe rtile men w ith no Y-chrom osom e m icrodeletions. In this
fe rtil hastada Y- krom ozom m ikrodelesyon araştırması norm al olarak
case, we aim ed to evaluate th e 46,XY,t (10;19) (q 11.2;q 13.4) karyo
b u lundu. Bu olguda prim e r in fe rtilite nedeniyle g e n etik laboratuva-
type, w hich was detected th ro u g h a cyto g en e tic analysis o f a person
rımıza gö n de rile n kişiye yapılan sito g e ne tik analiz sonucunda te sp it
referred to o u r g enetic laboratory due to prim a ry in fe rtility, in th e
edilen 46,XY,t (10;19) (q11.2;q13.4) ka ryo tip i lite ra tü r ışığı altında de
lig h t o f th e literature.
ğ e rlendirm eyi amaçladık.
Keyw ords: Chrom osom al translocation, in fe rtility
A nahtar Kelimeler: Kromozom al tranlokasyon, in fe rtilite
Introduction Infertility means the inability to conceive after at least one year of unprotected intercourse. It effects around 15-20% of couples in their reproductive years [1]. Male factor infertility contributes to about 50% o f all infertility cases among which chromosomal abnormalities varies from 2.2% to 15.2% [2, 3], Robertsonian translocations and sex chromosome abnor malities are the most frequent chromosomal abnormalities in infertile men. Reciprocal translocations have been found in approximately 1% of infertile men, and are more common in azoospermic than in oligozoospermic males [4]. It is well known that chromosomal translocations in men can cause spermatogenesis failure due to meiotic impairment [5], Y-chromosome microdeletions, also an important cause of male infertility, occur in 6-8% of severely oligospermic and in 3-15% o f azoospermic men [6]. Here, according to what we know so far, this is the first report o f a reciprocal translocation t (10;19) (q 11.2;q13.4) in oligozoospermic infertile men.
Case Report The patient was a 34-year-old male, who is married for 15 years with a 32-year-old female. The urology clinic referred him to our genetic counselling clinic for a karyotype analysis for infertility. The couple was not consanguineous. His history included bilateral varicocelectomy, and his physical exami nation revealed loss o f vision in the right eye. Laboratory analyses using scrotal colour Doppler ultrasonography (USG) showed that the right testis was smaller than the left (right testis volume: 6.4cc, left testis volume: 5cc). Hormonal tests showed LH 9.97 mlU/mL (1.7-8.6), FSH 21,97 mlU/mL (1.611.0), and testosterone 1.73 ng/mL (2.18-9.05), with all other tests being normal. The spermiogram showed the number of spermatozoa in 1cc to be 100.000/mL, with a sperm m otil ity of 40% per mL. The proband had 5 brothers and 1 sister and one of his brothers was unable to conceive for 4 years. There was an attem pt of parental chromosomal analysis and siblings of the proband, however it failed as the parents and siblings lived in another city.
Received: A pril 24, 2 0 1 3 / Accepted: Decem ber 04, 2 0 1 3 / Available O nline Date: July 8, 2014 Correspondence to: Murat Kara, Department of Medical Genetics, Mugla Sitki Kocman University Faculty of Medicine, Mugla,Turkey Phone: +90 252 211 51 51 e-maii: [email protected] ©Copyright 2014 by the Atatürk University School of Medicine - Available online at www.eajm.org DOI:10.5152/eajm.2014.33
Eurasian J Med 2014; 46:220-3
Kara et al. Chromosomal Translocation and Infertile
221
Figure 2. G-banded chromosomes 10 and 19 with break points a tiO q il.2 and 19 q13.4.
Cytogenetic analysis
Results
C ytogenetic analysis was perform ed according to stan dard cytogenetic m ethods fo r karyotype analysis o f the
The male partner revealed a reciprocal translocation t
couple. The 72-hour cultured cells from peripheral blood
(10; 19) (q 11.2;q13.4) w ith break points at 10 q 11.2 and 19
w ere harvested. The tryp sin GTG banded chrom osom es
q13.4 in all examined cells (Figures 1 and 2). The female part
o f th ir ty metaphases w ere analysed according to th e
ner's karyotype was normal (46, XX). O ther fam ily members
International System fo r Human C ytogenetic Nom enclature
did not give consent for the karyotype analysis because they
(ISCN) 2005.
were living in another city. Molecular investigation did not detect any Y-chromosome microdeletions.
Investigation of Y-chromosome microdeletions For m olecular genetic analysis, m icrodeletion analysis
Discussion
was perform ed by the m ultiplex polymerase chain reaction (PCR) m ethod on DNA extracted from peripheral blood. In
Chromosomal rearrangements are observed in patients
each case 8 markers in azoospermia factor (AZF) regions were
w ith azoospermia and severe oligosperm ia in autosomal
tested: the Zinc finger Y-chromosomal protein (ZFY), sex
and sex chromosomes, or both [7]. One o f the most com
determ ining region Y (SRY), sY84, sY86 (AZFa); sY127, sY134
m only seen chromosomal aberrations is the sex chrom osome
(AZFb); sY254, sY255 (AZFc).
aneuploidies, w hich is also known as Klinefelter's syndrome,
222
Kara et al. Chromosomal Translocation and Infertile
(47, XXY karyotype) [8]. The percentage o f infertile men is
Eurasian J Med 2014; 46: 220-3
malities and male infertility. Identification o f the carriers o f
higher since reciprocal and Robertsonian translocations are
chromosomal anomalies may reveal the cause o f in fe rtility
observed at 0.5-1/1000 in the newborns among the gen
and fetal losses in married couples. Chromosomal analysis and Y-microdelection screening are recom m ended when
eral population [9]. Spermatogenesis is negatively affected because o f such irregularities in the chrom osom e and lead
poor sperm production is suspected in male patients. In
ing to the form ation o f unbalanced gametes. Therefore, it is very im portant to determ ine the underlying genetic factors
couples w ho adm itted to visit genetic counselling clinics for infertility, it is im p o rta n t to diagnose infertility, identify the
in male infertility. In fe rtility cases associated w ith balanced
factors underlying infertility, and plan the treatm ent pro
translocations form ed by different chromosomes such as t
cess accordingly. Therefore, when numerical or structural
(13; 19), t (3;5), t (9; 11), t (7; 16), t (6,12), t (8;13), t (18;21) were
chromosomal anomalies are found in the patient, genetic
reported [5,10-14], To th e best o f our knowledge, this is the
counselling should be offered to the patient to g e th e r w ith
first report in the literature o f balanced non-robertsonian
a recom m endation o f pre-im plantation genetic diagnosis
reciprocal autosom al translocation t (10; 19) (q 11.2;q13.4)
(PGT) and amniosyntesis or chorionic villus sam pling for prenatal genetic diagnosis. The person, w ho was identified
associated w ith male infertility. Translocations behave uniquely because o f the chro
as having reciprocal translocations, is very im p o rta n t for the
mosomes involved in the reorganization, the size o f the
calculation o f the risks o f its transmission to the unborn baby,
translocated and th e in te rstitia l segments, and th e pres
if conception occurs after the treatm ent. To predict the risk o f passing a genetic condiriton to future generations, cytoge
ence or absence o f recom bination loci [15]. D epending on w hether reciprocal translocations are present in a balanced or in an unbalanced form , th e y have d iffe re n t effects on car
netic analysis and genetic counselling have to be perform ed in cases o f male infertility.
riers. Generally, carriers o f unbalanced reciprocal transloca tio n have p henotyp ic consequences o f m ental retardation and physical problem s. Balanced form s do n o t have any phenotypic effect on th e carriers, b u t these individuals are associated w ith reproductive problem s such as in fe rtility, repeated miscarriages and m alform ed offsprings due to chrom osom ally unbalanced gametes [4], The mechanism o f reciprocal translocation in male in fe rtility is n o t understood so far. The reorganization o f g enetic m aterial w ith recipro cal translocation may alter th e norm al progress o f meiosis in tw o ways. First, th e quad riva le n t form o f translocated
Informed Consent: W ritten informed consent was obtained from patients'parents who participated in this case. Peer-review: Externally peer-reviewed. Author Contributions: Concept - M.K., A.S.; Design - M.K., E.S.C.; Supervision - M.K.; Funding - K.K.; Materials - A.S., K.K.; Data Collection and/or Processing M.K., K.K.; Analysis and/or Interpretation -M.K., A.S.; Literature Review - E.S.C.; W riting - M.K., E.S.C.; Critical Review - M.K., E.S.C. Conflict of Interest: No conflict o f interest was declared by the authors.
chrom osom es and th e ir hom ologous can segregate in d if ferent ways durin g meiosis and this m e io tic segregation is unique fo r each translocation carrier. Several factors such
Financial Disclosure: The authors declared that this case has received no financial support.
as th e size o f th e intestinal and translocated segments, the m orphological characteristics o f th e rearranged ch ro m o somes and th e d is trib u tio n pattern o f chiasmata during metaphase I (Ml) are said to be d e te rm in a n t in th e p ro p o r tio n o f balanced and unbalanced gametes, w hich affect the final frequencies o f norm al and aberrant gametes [12, 16].
References 1.
2.
The oth e r way is th e increase o f th e a n euploidy frequencies o f oth e r chrom osom es th a t are n o t related to th e rearrange m ent. W hile sperm c o u n t is inversely correlated w ith the
3.
frequency o f contact, oogenesis is relatively preserved in th e presence o f such chrom osom al aberrations as seen in num ber o f fam ilies w ith balanced chrom osom al structural rearrangem ents associated w ith th e fem ale fe rtility [17], A
4.
significant lim ita tio n o f this case re p o rt is the non-availabil ity o f karyotype in o th e r fa m ily members. In conclusion, the case reported in the present study supports th e relationship betw een chrom osom al abnor
5.
Perrin A, Coat C, Nguyen MH, et al. Molecular cytogenetic and genetic aspects o f globozoospermia: a review. Andrologia 2013; 45:1-9. Gekas J, Thepot F, Turleau C, et al. Chromosomal factors o f infer tility in candidate couples for ICShan equal risk o f constitutional aberrations in women and men. Hum Reprod 2001; 16: 82-90. Wiland E, Wojda A, Kamieniczna M, Szczygiel M, Kurpisz M. Infertility status of male individuals w ith abnormal spermiogram evaluated by cytogenetic analysis and in vitro sperm pen etration assay. Medical science monitor: international medical journal of experimental and clinical research 2002; 8:394-400. Van Assche E, Bonduelle M, Tournaye H, et al. Cytogenetics of infertile men. Hum Reprod 1996; 11:1-24. Venkateshwari A, Srilekha A, Begum A, et al. De novo chro mosomal translocation t(3;5)(q 13;q35) in an infertile man. Andrologia 2011; 43:428-30.
Eurasian J Med 2014; 46:220-3
6.
Walsh TJ, Pera RR, Turek PJ. The genetics of male infertility. Seminars in reproductive medicine 2009; 27:124-36.
Kara et al. Chromosomal Translocation and Infertile
223
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