Fertile male tortoiseshell cat with true chimerism 38,XY/38,XY

The tortoiseshell coat colour is characteristic to female cats, and its occurrence in tomcats is very rare and associated with chromosome abnormalities (additional copy of X chromosome). The aim of this study was identification of the genetic basis of a case of tortoiseshell colour in a fertile Maine coon tomcat. Cytogenetic and molecular genetic studies were carried out with painting molecular probes (WCPP) specific to the X and Y sex chromosomes as well as a DNA microsatellite panel for the parentage verification of cats. Cytogenetic analysis revealed only a single set of sex chromosomes typical for male – 38,XY. The results of the microsatellite polymorphism obtained from DNA showed three alleles in locus FCA201 and four alleles in loci FCA149 and FCA441 in different tissues (blood, hair roots and testicles). Based on these results, the case was diagnosed as a true chimerism 38,XY/38,XY. To the best of our knowledge, this is the first case of a 38,XY/38,XY chimera diagnosed in cats, confirmed by genetic analysis.     

Congenital retroflexion of the penis and inguinal cryptorchidism in a presumptive bovine twin with a 60,XY/60,XX/61,XX,+cen chromosome constitution.

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.     

Pharyngeal polyps in two feline siblings

Pharyngeal polyps were diagnosed in 2 sibling kittens referred for evaluation of chronic upper respiratory tract disease. Surgical excision of the masses was performed in both kittens after skull radiography and oral examination. One kitten had a recurrence of pharyngeal polyps 5 weeks after surgery and was euthanatized and necropsied. The clinical and histologic findings in these 2 cases suggested a congenital origin of this disease.     

XX/XY mosaicism in lymphocyte cultures from a pig with freemartin characteristics

Sir. — Cultural confirmation of venereal campylobacteriosis in cattle can only be achieved if samples arc cultured on the day of collection or a suitable transport medium is used. Clark et al.⁽³⁾ have developed a selective enrichment medium for Campylobacter fetus venerealis which is also an effective transport medium ⁽⁸⁾. However, this transport medium is very cumbersome to prepare in that it requires a special gas mixture and large quantities of fresh bovine serum. This letter reports on the evaluation of Clark’s ⁽⁸⁾, cooked meat medium with antibiotics (CMMA), Weybridge ⁽⁴⁾, modified EMJH ⁽⁵⁾, Stuart’s (Oxford) and Cairy Blair (Oxoid) media, as transport media for C. fetus veneralis.     

True hermaphroditism in a horned goat with 60XX/60XY chimerism

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.     

XX/XY chimerism and freemartinism in a female llama co-twin to a male.

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.     

A Case of Leucocyte Chimerism (78,XX/78,XY) in a Dog with a Disorder of Sexual Development

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.     

XX/XY Blood Lymphocyte Chimerism in Heterosexual Dizygotic Twins from an American Bashkir Curly Horse. Case Report

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.     

High frequency of lymphocyte chimerism XX/XY and an analysis of hereditary occurrence of placental anastomoses in Booroola sheep

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.     

Sequence variations in equine candidate genes For XX and XY inherited disorders of sexual development

Inherited disorders of sexual development (DSD) cause sterility and infertility in horses. Mutations causing such disorders have been identified in other mammals, but there is little information on the molecular causes in horses. While the equine genome sequence has made it possible to identify candidate genes, additional tools are needed to routinely screen them for causative mutations. In this study, we designed a screening panel of polymerase chain reaction primer pairs for 15 equine genes. These are the candidate genes for testicular or ovotesticular XX DSD and XY DSD, the latter of which includes gonadal dysgenesis, androgen insensitivity syndrome (AIS), persistent Mullerian duct syndrome and isolated cryptorchidism. Six horses with testicular or ovotesticular XX DSD and controls were screened. In addition, candidate genes for androgen insensitivity syndrome, persistent Mullerian duct syndrome and isolated cryptorchidism were screened in normal horses. While no sequence variants were uniquely associated with XX DSD, the 38 sequence variants identified can serve as intragenic markers in genome-wide association studies or linkage studies to hasten mutation identification in equine XX DSD and XY DSD.     

Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX+Xp karyotype: case report

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.     

Radiotherapy in three suspect cases of feline thymoma

Radiation therapy for three cases of suspect feline thymoma is described. The thymoma was controlled for 4 years in case no. 1. Case no. 2 responded well to radiation therapy but was euthanized after 2 months because of a nasal adenocarcinoma. Case no. 3 continues to do well more than 8 months after radiotherapy. Difficulties in diagnosing feline thymomas are discussed, and biological behavior as well as different treatment modalities of feline and human thymomas are compared.