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1.
Cytogenetic and histological studies were carried out on an intersex horse which was diagnosed clinically as a cryptorchid. Surgery confirmed the horse to be a bilateral abdominal cryptorchid and histological examination revealed ovarian tissue associated with the left epididymis. Chromosome analysis of cultured cells from testicular tissue, ovarian tissue and skin revealed 64-XX and 64-XY make-up, the left gonad containing a greater preponderance of XX cells over XY cells. The external characteristics and behaviour of the horse were indistinguishable from that of a "routine" cryptorchid. Other cases of equine intersexes are reviewed and theories for the discrepancies between genetic, gonadal and phenotypic sex are discussed.  相似文献   

2.
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   

3.
Cytogenetic and histological studies have been carried out on an intersex horse which was clinically diagnosed as a cryptorchid. The horse had the general conformation of a stallion but the external genitalia included a well developed vulva and a penis. The right testis which was descended was devoid of germ cells and the left “gonad” located in the cavum vaginale contained neither testicular nor ovarian tissue. The male duct system on both sides were relatively well developed despite the absence of a testis on the left side. Chromosome analysis on cultured cells from the descended testis revealed the presence of four chromosomally-distinct cell types with XX, XY, XXY and XO sex complements indicating a quadruple mosaicism. The presence of polymorphonuclear neutrophils exhibiting a drumstick, in the hemopoietic tissues and a sex chromatin body in the nucleated cells of buccal mucosa suggest that mosaicism prevails in other somatic tissues of the horse. On the basis of information derived from similar conditions in humans and some domestic animals it would appear that this horse resulted from an XXY zygote. The four cell types noted in the horse probably resulted through mitotic mechanisms favouring the loss of an X and a Y at different stages during embryonic development. The absence of gonad on the left side of this horse might be causally related to the preponderance of XO cell types in the somatic blastema during early gonadal differentiation.  相似文献   

4.
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   

5.
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   

6.
采用外周血淋巴细胞培养法,对大通马的染色体核型进行了初步分析。结果表明:大通马的染色体数目为2n=64,公马核型为64,XY;母马为64,XX。该品种染色体的数目,形态与我国报道的其它马品种无明显差异。  相似文献   

7.
A male miniature rough-haired dachshund, presented with episodic haematuria, was found to be a female pseudohermaphrodite. A littermate also had an abnormality of the urogenital tract and their dam had received a progesterone implant during pregnancy. Chromosome analysis of the intersex revealed XX/XY mosaicism in certain tissues.  相似文献   

8.
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   

9.
Karyotype evaluation among young horse populations in Poland   总被引:1,自引:0,他引:1  
Five hundred young horses of the following breeds: Thoroughbred, Silesian, Malopolska, Wielkopolska, Polish Konik, Hutsul, Shetland Pony, Half-bred Anglo-Arabian, Noble Half-bred, Fjord and crosses were cytogenetically investigated. Chromosome preparations obtained after lymphocyte culture were analysed using conventional Giemsa staining and CBG-banding methods. In the case of abnormalities GTG-banding as well as FISH technique were applied. In ten mares different karyotypic abnormalities were diagnosed. One mare showed chromosome chimerism (64,XX/64,XY), eight had sex chromosomal aneuploidy (one in pure line 63,X and seven in mosaic form 63,X/64,XX) and one presented autosomal aneuploidy with mosaicism (64,XX/65,XX,+31). The influence of sex chromosome abnormalities on fertility and the possible utilisation of karyotypic control in any selection programme are discussed.  相似文献   

10.
INFERTILITY IN THE HORSE ASSOCIATED WITH CHROMOSOMAL ABNORMALITIES   总被引:1,自引:0,他引:1  
SUMMARY Reproductive failure was studied in 12 phenotypically normal mares (9 Arabian, 3 Quarter horses, 1 Appaloosa and 1 pony). Karyotyping was performed using lymphocytes isolated from peripheral blood by density gradient procedures, followed by standard culture methods for karyotyping. Nine mares had karyotypes of 63,XO; 1 had 63,XO/64,XX; 1 had 63,XO/64,XY and 1 had 64,XY. All mares had small, firm ovaries that when removed and examined from 4 mares, lacked germ cells and consisted of undifferentiated ovarian stroma.  相似文献   

11.
Cytogenetic studies of a closed herd of Booroola Merino sheep were carried out over six consecutive years and covered 167 (90 females and 77 males) sheep originating from 77 heterosexual multiple births. Lymphocyte 54XX/XY chimerism was revealed in 24 litters including 20 (11.98%) ewes and 22 (13.17%) rams, i.e. 25.14% of the karyotyped group of animals and 11.17% of all animals weaned in the herd. Familial and pedigree relations revealed in the study indicate a hereditary tendency to develop placental anastomoses in sheep. Fifteen chimeric litters were sired by six rams. Three rams were carriers of XX/XY chimerism and each sired a chimeric litter. Coefficients of inbreeding ranged from 0.06525 to 0.125 with a mean of 0.094. The pedigree analysis up to the fifth generations showed that two rams were ancestors of all chimeric litters. Based on the analysis of the reproductive performance of dams and sires which produced 32 litters of which three-quarters were chimeric suggested, that the formation of anastomoses is controlled by a dominant gene.  相似文献   

12.
A total of 181 Romanov lambs, including 84 pairs of twins, three litters of triplets and one litter of quadruplets, were investigated. Erythrocyte antigens belonging to six blood group systems were determined with 16 reagents. Six microsatellite loci BMS360, INRA123, McM42, CSSM66, ETH225 and TGLA53 were used to genotype the lambs with automated DNA sizing technology. For cytogenetic diagnosis of leucocyte chimerism, the fluorescence in situ hybridization (FISH) was applied using bovine X and Y chromosome painting probes. The blood‐group typing of lambs from twin and multiple pregnancies allowed us to detect nine cases of erythrocyte chimerism in the investigated population. The analysis of microsatellite DNA sequences showed the presence of cell chimerism in 13 animals. The hybridization of a bovine X and Y chromosome‐specific probe resulted in two yellow brightly luminescent signals in 54,XX cells, and one yellow and one blue signal in 54,XY cells helped us diagnose chromosomal chimerism in seven animals.  相似文献   

13.
A polymerase chain reaction (PCR) assay which detects a sex-based polymorphism in the bovine amelogenin locus was modified and compared to conventional cytogenetic analysis for diagnosis of freemartinism (XX/XY chimerism) in cattle. The PCR assay is more sensitive than cytogenetic analysis for detection of XY cells, with the limit of detection of the assay falling between 0.2% and 1% XY cells. Seventy-three heifer blood samples submitted for evaluation of freemartinism to the University of Minnesota Diagnostic Laboratory were tested using both cytogenetic and PCR techniques. Poor-quality samples precluded successful lymphocyte culture and recovery of mitotic nuclei for cytogenetic evaluation in 17 cases (23%). Two of these samples (2.7%) also failed to amplify with PCR. There was 100% agreement in the results from the 56 samples that were suitable for testing using both techniques. This PCR-based assay provides an alternative to the more laborious cytogenetic evaluation for diagnosis of freemartinism.  相似文献   

14.
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   

15.
Studies were carried out on a yearling Holstein with external genitalia resembling those of a freemartin whose birth and developmental history was unknown. Dissection following slaughter showed testes close to the external inguinal rings, an underdeveloped penis coiled up subcutaneously in the perineum and terminating in a deep fossa at the level of the ischial arch and no evidence of a female genital tract. Chromosome analyses showed 60,XY cells in the blood and 60,XX and 61,XX,+cen cells in other tissues. It is postulated that the animal had a basic 60,XX/61,XX+cen mixoploid chromosome constitution, that the centric fragment functioned as a Y chromosome or as an autosomal modifier of the X chromosome in sex determination which accounted for the animal's Klinefelter syndrome-like abnormalities, and that animal was also twin to a bull which accounted for the presence of 60,XY cells in the blood.  相似文献   

16.
Chromosomal abnormalities have been detected in five mares identified by their poor reproductive performance. All had small gonads and absent or irregular oestrous cycles. One mare was 65, XXX, two were 64, XY sex-reversal females and two were sex chromosome mosaics with karyotypes of 63, XO/64, XX/64, XY and 63, XO/64, XX respectively. This report supports the suggestion made in earlier studies that sex chromosome abnormalities may be a significant cause of sterility in the mare.  相似文献   

17.
Sex chromosome abnormalities have been detected in a further five mares with clinical histories of small ovaries and absent or irregular oestrous cycles. Three mares had 63,XO karyotypes (X monosomy) and two were sex chromosome mosaics with karyotypes of 63,XO/64,XY and 63,XO/64,XX/64,XY respectively. A sex chromosome abnormality (X monosomy) has also been found in a filly where it was suspected because of her short stature.  相似文献   

18.
Sex chromosome abnormalities have been detected in a further five mares with clinical histories of small ovaries and absent or irregular oestrous cycles. Three mares had 63,XO karyotypes (X monosomy) and two were sex chromosome mosaics with karyotypes of 63,XO/64,XY and 63,XO/64,XX/64,XY respectively. A sex chromosome abnormality (X monosomy) has also been found in a filly where it was suspected because of her short stature.  相似文献   

19.
Peripheral blood samples from a 13-year-old Thoroughbred mare were submitted for chromosome analysis. The mare had a poor reproduction record only producing four live foals during her 10 years as a broodmare. She had remained barren or experienced early embryonic loss in the other 6 years. Chromosomal analysis revealed the mare carried a rare nonreciprocal translocation involving chromosomes 2 and 13 [64,XX,t(2;13)]. Fluorescence in situ hybridization with probes specific for horse chromosomes 2 and 13 were used to confirm the nonreciprocal translocation. Both conventional and molecular cytogenetic techniques are important for identifying and characterizing chromosomal abnormalities in horses with poor reproductive performance, particularly in mares experiencing repeated early embryonic loss.  相似文献   

20.
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   

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