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1.
I Szczerbal J Nowacka‐Woszuk W Nizanski S Salamon M Ochota S Dzimira W Atamaniuk M Switonski 《Reproduction in domestic animals》2014,49(3):e31-e34
A 1‐year‐old Shih Tzu dog was presented for examination because of abnormal external genitalia. A residual penis with a prepuce was located in a position typical of a male. The dog had no palpable testicles or scrotum. The ultrasound examination revealed the presence of the prostate, but the gonads remained undetectable. Cytogenetic analysis performed on chromosome preparations obtained from lymphocyte culture showed two cell lines – 78,XX and 78,XY. Molecular analysis of 14 polymorphic microsatellite markers allowed us to distinguish leucocyte chimerism from whole body chimerism. The presence of 3 or 4 alleles was confirmed in DNA isolated from blood, while in DNA isolated from hair follicles only 1 or 2 alleles were detected. The case was classified as leucocyte 78,XX/78,XY chimerism. Our study showed that XX/XY leucocyte chimerism might be associated with disorder of sexual development in dogs. Furthermore, it is emphasized that the use of cytogenetic study, in combination with analysis of polymorphic markers in DNA isolated from different somatic cells, facilitates distinguishing between leucocyte and whole body chimerism. 相似文献
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Batista M González F Cabrera F Palomino E Castellano E Calero P Gracia A 《The Canadian veterinary journal. La revue veterinaire canadienne》2000,41(7):562-564
Anatomical, behavioral, histological, endocrinological, and cytogenetic characteristics were determined in a horned intersex goat. Histology of the gonads confirmed that the goat was a true hermaphrodite. Cytogenetic analysis showed that it was a chimera (60XX/60XY). Use of laparoscopy allowed determination of characteristics of the internal gonads. 相似文献
3.
R Murakami Y Miyake Y Kaneda 《Nippon juigaku zasshi. The Japanese journal of veterinary science》1989,51(5):941-945
A total of 18 sterile heifers, their mother cows, their half-sib cows and a bull which may or may not be a full-sib were cytogenetically investigated. Three cases out of the 18 sterile heifers showed different types of chromosomal abnormalities respectively; 60, XY; 60, XX/60, XY; 61, XX, +20. The remainder showed normal karyotype. 相似文献
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A survey of malformed aborted bovine fetuses, stillbirths and nonviable neonates for abnormal karyotypes. 总被引：2，自引：0，他引：2 
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下载免费PDF全文 Postmortem examinations were performed on 30 morphologically abnormal aborted bovine fetuses, stillbirths and nonviable neonates. Fibroblasts from the pericardium were cultured for chromosome analysis. Karyotypes were successfully completed on 18 animals, of which three were trisomic, one was mosaic monosomic and one was chimeric. All aneuploid calves had multisystemic anomalies. Using chromosomal banding techniques, the abnormal karyotypes were determined to be: 61,XY,+27; 61,XX,+21; 61,XY,+?; 59,XY,-?/60,XY; and 60,XX/60,XY. Bacterial contamination or nonviability of tissues prevented the growth of fibroblasts in culture and cytogenetic analysis of the other 12 animals. It was estimated that 2.0% of all late gestation abortuses and stillbirths may have chromosomal abnormalities characterized by aneuploidy. The findings of this study suggest chromosomal abnormalities characterized by aneuploidy are a significant cause of multisystemic anomalies in aborted bovine fetuses and nonviable neonates. 相似文献
5.
D S Gallagher B C Lewis M De Donato S K Davis J F Taylor J F Edwards 《Veterinary pathology》1999,36(5):448-451
A 240-day-gestation female bovine fetus with severe anasarca, palatoschisis, cheiloschisis, mild cranioschisis, and a flattened facies was collected at a slaughterhouse, and a fibroblast line was established from the fetal skin. Chromosome preparations were Q-banded, and chromosome counts were taken that indicated the presence of 61 chromosomes in cells of the fetus (the normal diploid number for domestic cattle is 60). Q-band karyotypes were constructed, and Q-band analysis revealed the presence of three copies of chromosome 20. Trisomy 20 (61,XX,+20) was confirmed through the use of two-color fluorescence in situ hybridization of bovine bacterial artificial chromosome clones that were specific to chromosome 20 and the X chromosome. 相似文献
6.
R. JurasT. Raudsepp PhD P.J. DasE. Conant PhD E.G. Cothran 《Journal of Equine Veterinary Science》2010
Cytogenetic analysis and microsatellite genotyping were conducted on a pair of phenotypically normal dizygotic heterosexual equine twins of the American Bashkir Curly breed. The animals had a mixture of 64,XX and 64,XY cells in blood lymphocytes, with their own cells being predominant. Therefore, the 64,XX cells comprised 81% of the lymphocyte population in the female twin and 64,XY comprised 79% in the male twin. Blood chimerism was confirmed by genotyping 30 microsatellite markers. Of these, 15 microsatellites showed the presence of three alleles and all four parental alleles in the blood lymphocytes for both animals. No chimerism was detected in the genomic deoxyribonucleic acid isolated from hair follicles. These results are in agreement with earlier observations that vascular anastomoses can infrequently occur during equine multiple pregnancies resulting in blood lymphocyte chimerism without significant effect on the phenotype. 相似文献
7.
Cytogenetical studies were made on 6 infertile pigs. Post-mortem examination of the reproductive organs of 5 of these pigs showed them to be intersexes. Regardless of the degree of gonadal deviation from the normal, chromosome karyotype of cultured peripheral blood lymphocytes, bone marrow, liver and kidney, revealed that 4 of the intersexes had a 38, XX constitution. One intersex exhibited sex chromosome mosaicism (38XX/38XY) in lymphocytes from the peripheral blood and bone marrow and a normal male karyotype (38XY) in cultured liver and kidney cells. The sixth pig, a phenotypically normal boar, also had a 38XX/38XY chromosome constitution. 相似文献
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K Hinrichs L C Buoen G R Ruth 《Journal of the American Veterinary Medical Association》1999,215(8):1140-1141
A 20-month-old female llama was examined because at the time of mating, the male llama was apparently unable to achieve intromission. The female llama had been born co-twin to a male. On physical examination, the vaginal vestibule appeared to end in a blind pouch, and the uterus, cervix, and ovaries could not be identified during transrectal palpation or ultrasonography. Karyotyping was done, and 43% of blood lymphocytes had 2 X chromosomes, and 57% had 1 X and 1 Y chromosome. All skin fibroblasts had 2 X chromosomes. A diagnosis of freemartinism and XX/XY chimerism was made. Because conception of twins may be more common in llamas than birth of twins, it is possible that freemartinism could develop in singleton females, if, for instance, a male twin was conceived and died after the placentas had anastomosed. More widespread use of karyotyping in llamas with congenital defects of the reproductive tract will help to define the incidence of freemartinism. 相似文献
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Bugno-Poniewierska M Kozub D Pawlina K Tischner M Tischner M Słota E Wnuk M 《Reproduction in domestic animals》2011,46(5):787-792
The aim of this study was a cytogenetic analysis of stallions semen to find sex chromosome aberrations and to determine if there was an association between stallion's age and aberration frequency for the sex chromosomes. Sperm samples were collected from 22 stallions of various age from 3 to 23 years. Multicolour FISH was performed on each sample, using probes for the sex chromosomes and EGFR gene, localized on 4p12 in domestic horse. A total of 26199 sperm cells were analysed (from 1 070 to 1 532 per animal). Among the analysed cells, there were 50.318% with X chromosome, 48.543% with Y chromosome and 1.139% with aberrant chromosomes. The frequency of aberrations was: sex chromosomes nullisomy (0.466%), XY aneuploidy (0.454%), XX disomy (0.146%), YY disomy (0.041%), diploidy (0.024%) and trisomy XXY (0.008%). Additionally there was a correlation between the age of an animal and the frequency of sex chromosome aberration and a significant positive correlation between age and disomy of XY, XX, YY, trisomy of XXY, autosomal disomy was seen. A Correlation between the age of a stallion and the level of nullisomy was negative. The present study demonstrated that FISH technique is a powerful method to identify sex chromosome aberrations in equine spermatozoa and might be very helpful for a breeder during a selection for the best stallion. 相似文献
13.
In this study, the annual cycle of the gonadal steroids testosterone (T), 11‐ketotestosterone (11‐KT), 17β‐oestradiol (E2) and 17α, 20β‐dihydroxy‐4‐pregnen‐3‐one (DHP) was determined using radioimmunoassay and then compared, for XY males (n = 35) and sex‐reversed XX males (n = 27) rainbow trout, to establish possible endocrinology differences. Both in XY males and sex‐reversed XX males, significant correlation was shown between body weight and T (r = 0.5046 and 0.34078, respectively; p < 0.0001) or KT (r = 0.52494 and 0.43545, respectively; p < 0.0001) concentrations. Plasma androgen levels in XY and sex‐reversed XX males were similar and showed an intense seasonal variation. The highest levels for T and 11‐KT were detected from December to April with a peak in January (51.67 ± 5.11 and 61.95 ± 4.25 ng/ml, for XY males and 57.1 ± 5.82 and 59.27 ± 4.84 ng/ml, respectively, for XX males). In addition, there was a positive correlation (p < 0.0001) between T and 11‐KT levels for XY males (r = 0.7533) and sex‐reversed XX males (r = 0.6019). Concentrations of DHP in XY males also showed seasonal variation with a peak in February (25.18 ± 12.99 ng/ml). However, DHP levels in sex‐reversed XX males were undetectable (<0.1 ng/ml) over the year. Levels of E2 were undetectable through the year in both groups of trout. In conclusion, the androgenic and oestrogenic profiles of sex‐reversed XX males were similar to those observed in XY males. The only difference in the annual gonadal steroid cycle between XY and sex‐reversed XX males was in the DHP profile. 相似文献
14.
An intersex horse exhibiting cell types of different sex chromosome constitution was subjected to further studies in order to determine whether the house was a mosaic or a chimera. Cultures of gonadal tissue and peripheral blood revealed mainly 64/XX and 64/XY cells, the former predominating in both tissues. The frequency of drumstick-bearing poly-morphonuclear neutrophils in the intersex horse was similar to that noted in normal mares. Blood type analysis using 17 naturally occurring agglutinins and hemolysins revealed partial agglutinations with three antibodies for the factors of the A system (anti-A, anti-F, and anti-I), and partial hemolysis with anti-Fr3 suggesting erythrocyte chimerism probably resulting from intrauterine interchange of blood cell precursors as noted in other domestic animals. On the other hand, the presence of XX and XY cells in cultures of gonads which in our intersex horse were apparently devoid of germ cells, would seem to indicate wholebody chimerism resulting from double fertilization or blastocyst fusion. 相似文献
15.
A 5-year-old infertile Hutsul mare was subjected to cytogenetic analysis. Fluorescence in situ hybridisation (FISH) using the equine Xp and Xq chromosome painting probes was carried out on chromosome preparations obtained after blood lymphocyte culture. These probes were generated by chromosome microdissection and a large number of spreads was analysed (525). The karyotype formula of the analysed mare was 64,XX/65,XX+Xp with the ratio of the two lines being 99.4 and 0.6, respectively. The goal of the study was to apply chromosome microdissection and the FISH technique for cytogenetic diagnostics. 相似文献
16.
JJCWM Buijtels J de Gier T van Haeften HS Kooistra B Spee EJB Veldhuis Kroeze C Zijlstra AC Okkens 《Reproduction in domestic animals》2009,44(5):751-756
Normal mammalian sex differentiation takes place in three genetically controlled steps: chromosomal sex determination (XX or XY), gonadal differentiation and development of the phenotypic sex. Animals are considered to be sex reversed if chromosomal sex determination and gonadal development are not in agreement. In this report, sex reversal is described in a 1.5-year-old Podenco dog that was referred because of suspected recurrent growth of a previously removed os clitoridis in the vulva. With that exception the dog was phenotypically female, but had never been in oestrus and exhibited male behaviour. Abdominal ultrasonography showed a small tubular structure dorsal to the bladder, consistent with a uterus. An ovoid structure resembling a gonad was visible between the right kidney and inguinal canal. Plasma testosterone concentrations before and after GnRH administration indicated the presence of functional testicular tissue. Two testes, each with its epididymis and ductus deferens, and a complete bicornuate uterus were removed surgically. Cytogenetic analysis of peripheral blood lymphocytes showed a normal female karyotype (78, XX). These findings are consistent with the diagnosis of an XX male. PCR analysis of genomic DNA revealed that the SRY gene was absent. In summary, this report describes the first SRY-negative XX male Podenco dog with an almost complete female phenotype despite high basal and stimulated plasma testosterone concentrations. It is hypothesized that the clinical observations in this dog may have been caused by reduced and delayed Müllerian-inhibiting substance secretion and the absence of conversion of testosterone to dihydrotestosterone due to 5α-reductase deficiency. 相似文献
17.
Sigridur K. Bodvarsdottir MSc PhD Freyja Imsland BSc Bjorgvin Thorisson VMD Margret Steinarsdottir MSc Jorunn E. Eyfjord DPhil 《Journal of Equine Veterinary Science》2009,29(10):734-738
A 4-year-old Icelandic horse, considered to be a mare, showed stallion-like behavior in a group of mares. On clinical examination, the horse turned out to have an enlarged erectable phallic clitoris. Ultrasound examination showed a normal-sized left ovary covered with numerous small follicular cysts and a compact testis-like tissue in place of the right ovary. The karyotype was normal for a mare (64,XX), and the horse was found to be negative for the Y chromosome–specific markers SRY, ZFY, and EIF1AY. This case indicates that the intersexual phenotype may be caused by autosomal recessive mutation, resulting in defects in cortisol biosynthesis rather than transferal of Y chromosome male–specific genes. This is the first report of an intersexual phenotype in an Icelandic horse that is likely to be a true hermaphrodite because of female sex chromosomes and a mixture of female and male gonads and external genitals. 相似文献
18.
Melniczek JR Dambach D Prociuk U Jezyk PF Henthorn PS Patterson DF Giger U 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》1999,13(6):564-569
Two related female Norwegian Elkhounds were evaluated at 6 and 8 months of age for enlarged clitori. Both had a 78 XX karyotype. Histology of their internal reproductive tracts demonstrated 1 to be an XX true hermaphrodite with bilateral ovotestes and the other to be an XX male with bilateral aspermatogenic testes. Polymerase chain reaction-based tests of genomic DNA showed that both dogs lacked Sry, the testis-determining gene. Pedigree analysis was consistent with an autosomal recessive mode of inheritance, as has been reported in the American Cocker Spaniel and the German Shorthaired Pointer. This is the 1st reported case of familial Sry-negative XX sex reversal in the Norwegian Elkhound. A summary of 34 previously unreported cases of dogs with masculinized external genitalia and a normal 78 XX karyotype seen from 1980 to 1997 is given. 相似文献
19.
Presumptive Sry-negative XX sex reversal in a llama with multiple congenital anomalies. 总被引：1，自引：0，他引：1
M L Drew V N Meyers-Wallen G M Acland C L Guyer D N Steinheimer 《Journal of the American Veterinary Medical Association》1999,215(8):1134-1139
Multiple congenital abnormalities of the external genitalia consistent with XX sex reversal were detected in a juvenile llama. The llama had a typical female karyotype (74, XX) and did not have a Y chromosome, but a minute chromosome was detected. To determine whether a piece of Y chromosome containing the Sry gene might be located in a small translocation, DNA analysis by polymerase chain reaction was performed; the Sry gene was not detected. Histologic examination revealed ovarian tissue, whereas testicular tissue was not found. External genitalia were partially masculinized, indicating that the urogenital sinus, genital tubercle, and genital swellings had been exposed to androgens during development, although the dam had not received exogenous androgens. Testicular tissue in the ovaries may have been undetected or had regressed prior to birth, as has been reported in sex reversal in mice. 相似文献
20.
Bannasch D Rinaldo C Millon L Latson K Spangler T Hubberty S Galuppo L Lowenstine L 《Veterinary journal (London, England : 1997)》2007,173(2):437-439
A female American saddlebred horse was presented for surgical correction of a possible pseudohermaphrodite condition. The horse had abnormal external genitalia and exhibited stallion-like behaviour. No evidence of uterine or ovarian tissue was identified on laparoscopic examination, but hypoplastic testicular-like tissue was removed, although this was found to contain no spermatogonia upon histopathological examination. A karyotype was performed and showed the normal chromosomal complement for a female horse (64,XX). Polymerase chain reaction to detect the SRY gene was negative in peripheral blood as well as the testicular-like tissue. This case represents the first report of an SRY negative XX-male sex reversal intersex phenotype, which is a potentially inherited condition, in an American saddlebred horse. 相似文献