ABSTRACT
Three Rottweilers with marked peripheral eosinophilia and infiltration of the liver, spleen, lungs, and bone marrow with eosinophils were diagnosed with idiopathic hypereosinophilic syndrome (IHES). Mean serum immunoglobulin E concentrations were markedly high. On cytogenetic analysis, no evidence of karyotypic abnormalities was found in bone marrow aspirates. Despite an extensive search, no underlying cause for the eosinophilia could be identified. In this study, cytogenetic analysis and measurement of serum IgE concentrations were used to differentiate IHES and eosinophilic leukemia.
Subject(s)
Dog Diseases/diagnosis , Hypereosinophilic Syndrome/veterinary , Animals , Diagnosis, Differential , Dog Diseases/pathology , Dogs , Female , Hypereosinophilic Syndrome/diagnosis , Immunoglobulin E/blood , Karyotyping , MaleSubject(s)
DNA-Binding Proteins/genetics , Disorders of Sex Development/veterinary , Horse Diseases/genetics , Nuclear Proteins , Sex Determination Processes , Transcription Factors , X Chromosome , Animals , Chromosome Banding/veterinary , DNA/chemistry , DNA Primers/chemistry , Disorders of Sex Development/genetics , Female , Horses , Karyotyping/veterinary , Male , Pedigree , Polymerase Chain Reaction/veterinary , Sex-Determining Region Y Protein , X Chromosome/geneticsABSTRACT
OBJECTIVE: To determine prevalence of Holstein bulls with chromosomal anomalies, particularly the 1/21 centric fusion (CF), at a commercial artificial insemination (AI) company in the United States. DESIGN: Cross-sectional cytogenetic prevalence study. ANIMALS: All 606 Holstein bulls at a commercial AI company were cytogenetically screened to detect CF, chimerism, and other chromosomal abnormalities. PROCEDURE: Lymphocytes from heparinized blood samples were cultured by standard cytogenetic techniques, and chromosome spreads were prepared for microscopic examination. Chromosomal abnormalities were detected by examining 10 chromosome spreads per bull. Pedigree analysis was performed. RESULTS: None of the bulls had any type of CF. However, 6 bulls were identified as chimeras (i.e., contained lymphocytes with male [XY] and female [XX] chromosomes). One bull was sire or maternal grandsire to 85 of the bulls tested, and 739 of 1,212 (61%) sire and maternal-grandsire possibilities were accounted for by just 18 bulls. CONCLUSIONS AND CLINICAL RELEVANCE: Analysis of these results supports previous indications that CF is extremely rare in Holstein bloodlines available commercially via AI in the United States. However, chimeric bulls are more common, and they reportedly have decreased reproductive performance. Therefore, identification of chimeric sires in the AI facility reported here and the possibility of de novo onset of CF at any time indicates that early cytogenetic screening should be encouraged for prospective bulls intended for use in AI programs.
Subject(s)
Cattle/genetics , Chromosome Aberrations/veterinary , Cytogenetic Analysis/veterinary , Insemination, Artificial/veterinary , Animals , Chimera/genetics , Chromosome Aberrations/epidemiology , Chromosome Aberrations/genetics , Chromosome Disorders , Cross-Sectional Studies , Female , Male , Pedigree , Prevalence , United StatesABSTRACT
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.
Subject(s)
Camelids, New World , Chimera/genetics , Freemartinism/genetics , Genitalia, Female/abnormalities , Sex Chromosome Aberrations/veterinary , Animals , Female , Karyotyping/veterinary , Male , Sex Chromosome Aberrations/genetics , Twins , X Chromosome , Y ChromosomeSubject(s)
Dog Diseases/diagnosis , Infertility, Male/veterinary , Oligospermia/veterinary , Sex Chromosome Aberrations/veterinary , X Chromosome , Y Chromosome , Animals , Dog Diseases/genetics , Dogs , Infertility, Male/diagnosis , Infertility, Male/genetics , Male , Oligospermia/diagnosis , Oligospermia/genetics , Sex Chromosome Aberrations/diagnosis , Sex Chromosome Aberrations/genetics , Testis/pathologyABSTRACT
A 3-year-old female llama was examined because of a history of infertility and apparent anovulation. The llama had indifferent behavior when penned with a male, but eventually would assume sternal recumbency for breeding. On examination, the llama was underweight and small in stature. The uterine horns and ovaries could not be identified during palpation or ultrasonography per rectum, and the cervix was dilated when examined with a speculum. Chromosomal preparations of lymphocytes and skin fibroblasts were performed; all cells examined had a 73, X karyotype (X-chromosome monosomy). To our knowledge, this is the first report of a chromosomal anomaly in a llama. Signs seen in this llama were similar to those seen in mares with X-chromosome monosomy. This condition should be considered in the differential diagnosis of infertility in llamas that fail to ovulate, especially if other abnormalities such as indifferent sexual behavior and short stature are present.
Subject(s)
Camelids, New World , Infertility, Female/veterinary , Monosomy , X Chromosome , Animals , Female , Infertility, Female/genetics , Infertility, Female/pathology , Karyotyping/veterinary , Progesterone/blood , Sexual Behavior, AnimalSubject(s)
Arthrogryposis/veterinary , Chromosome Aberrations/veterinary , Horse Diseases/genetics , Trisomy , Animals , Animals, Newborn , Arthrogryposis/genetics , Chromosome Aberrations/epidemiology , Chromosome Aberrations/genetics , Chromosome Disorders , Female , Horse Diseases/epidemiology , Horses , Incidence , Karyotyping/veterinary , Male , PhenotypeABSTRACT
A bilateral cryptorchid stallion with mild development of mammary glands was identified as an XX male by karyotyping. Necropsy revealed underdeveloped accessory sex organs and hypoplastic, inguinally located testes that were deficient of spermatogonia. Evaluation of routine hormonal profiles (without karyotyping) would have failed to diagnose this syndrome.
Subject(s)
Cryptorchidism/veterinary , Disorders of Sex Development/veterinary , Horse Diseases/genetics , Sex Chromosome Aberrations/veterinary , X Chromosome , Animals , Cryptorchidism/genetics , Disorders of Sex Development/genetics , Estrogens/blood , Follicle Stimulating Hormone/blood , Genitalia, Male/abnormalities , Genotype , Horses , Karyotyping/veterinary , Luteinizing Hormone/blood , Male , Mammary Glands, Animal/growth & development , Phenotype , Sex Chromosome Aberrations/genetics , Syndrome , Testis/abnormalities , Testosterone/blood , Translocation, GeneticABSTRACT
A total of 727 blood samples from female calves born co-twin to male calves were examined cytogenetically for freemartinism between 1978 and 1992. Six hundred calves (82.5%) were determined to be freemartins, and 127 (17.5%) were determined not to be freemartins. The percentage of calves determined not to be freemartins was substantially higher than the 8% reported for an unselected population of female co-twins. We concluded that some obvious freemartins were eliminated prior to submission of samples for confirmatory cytogenetic diagnosis, and that only a small percentage of the estimated 93,000 female calves born co-twin to male calves annually are so examined. Therefore, probably a large number of female co-twins that are not truly freemartins are sold to slaughter every year. We propose that obvious freemartins be identified by use of the vaginal-length test and that the remaining clinically questionable calves be differentiated cytogenetically. This combination of procedures could prevent unnecessary economic losses and preserve important genetic material. Three animals with chromosomal anomalies were found during examination of samples for freemartinism. Cytogenetic evaluation for freemartinism thus offers the added value of simultaneous surveillance for cytogenetic aberrations in male and female cells of a sample.
Subject(s)
Freemartinism/diagnosis , Animals , Animals, Newborn , Cattle , Female , Freemartinism/epidemiology , Freemartinism/genetics , Karyotyping/veterinary , Male , Twins , United States/epidemiology , Vagina/pathologySubject(s)
Infertility, Female/genetics , Monosomy , X Chromosome , Animals , Breeding , Female , Horses , Karyotyping , Sex Chromosome Aberrations/veterinaryABSTRACT
In our initial cytogenetic surveillance of boars one of 15 was found to be hypoprolific. It averaged 7.1 piglets per litter in over 51 monospermic matings with sows which, with other boars averaged 10.8 piglets per litter. Cytogenetic evaluations revealed only the hypoprolific boar to have an abnormal karyotype, namely {38XY, t(1;14) (q2.12, q2.2)}. This represents a new type of 1;14 reciprocal translocation, and also the first report of a reciprocal translocation for swine in the United States.
ABSTRACT
Cytogenetic evaluation was made on 353 Simmental cattle (166 male, 187 female) from 113 herds in 26 states. One hundred thirty-eight (39%) were found to be heterozygous-positive for the 14/20 centric fusion chromosomal translocation, including 41 (25%) males and 97 (52%) females. One submitted heparinized blood sample from a Simbrah bull was found to be positive for 14/20 and 1/29 centric fusions. Sampling, which was based on requests, was highly selective. Thus, the 39% prevalence found was not representative of 14/20 centric fusion in the national Simmental breed. On the basis of our findings, cytogenetic evaluation of breeding stock was consistent with modern management practice.
Subject(s)
Breeding , Cattle Diseases/genetics , Cattle/genetics , Chromosome Aberrations , Infertility/veterinary , Animals , Centromere , Chromosome Banding , Female , Fertilization/genetics , Heterozygote , Infertility/epidemiology , Infertility/genetics , Insemination, Artificial/veterinary , Male , Prevalence , Translocation, Genetic , United States/epidemiologyABSTRACT
A stunted Miniature American Eskimo bitch that had signs of proestrus, which persisted for almost 8 months, had a 77,XO karyotype. Despite signs of proestrus, the ovaries were small and fibrous, and there was no evidence of ovarian follicle development or corpora lutea. Except for its juvenile appearance, the rest of the reproductive tract was grossly normal. Clinical signs in this bitch were similar to those in human beings with Turner's syndrome.
Subject(s)
Dog Diseases/genetics , Monosomy , Proestrus/genetics , X Chromosome , Animals , Dogs , Female , Follicle Stimulating Hormone/blood , Genitalia, Female/pathology , Karyotyping/veterinary , Luteinizing Hormone/bloodSubject(s)
Cattle/genetics , Chromosome Aberrations , Fibroblasts/ultrastructure , Heterozygote , Animals , Female , Lymphocytes/ultrastructure , Male , Skin/cytology , TwinsSubject(s)
Cattle Diseases/pathology , Mast-Cell Sarcoma/veterinary , Skin Neoplasms/veterinary , Animals , Antibodies, Viral/blood , Cattle , Cattle Diseases/microbiology , Female , Leukemia Virus, Bovine/immunology , Leukemia Virus, Bovine/isolation & purification , Lymph Nodes/pathology , Mast-Cell Sarcoma/microbiology , Mast-Cell Sarcoma/pathology , Mast-Cell Sarcoma/ultrastructure , Microscopy, Electron , Skin Neoplasms/microbiology , Skin Neoplasms/pathology , Skin Neoplasms/ultrastructureSubject(s)
Cattle/genetics , Fertility , Translocation, Genetic , Animals , Cattle/physiology , Female , Genetic Carrier Screening , MaleABSTRACT
Eight of nine leukaemic cats had chromosomal abnormalities. The major differences between the healthy, FeLV-negative control cats and the leukaemic cats were the increased number of hyperdiploid cells and the presence of double minute or morphologically abnormal chromosomes in the leukaemic cats. Three leukaemic cats had cells with double minute chromosomes, while no normal cats had cells with double minute chromosomes. Tetrasomy or trisomy most frequently involved chromosomes C2 and B4. Monosomy was most common in chromosomes A3, C2, D4, E3 and F2. Chromosome abnormalities were also observed in bone marrow cells from two of three healthy, FeLV-positive cats and both cats with thymic lymphosarcoma. Increased numbers of hyperdiploid cells, double minute chromosomes and trisomy of C2 were the most important findings. No correlations between cytogenetic findings and diagnosis or prognosis were found. Additional research is necessary to determine the significance of chromosome aberrations in cells from healthy, FeLV-positive cats. If these changes prove to represent early neoplastic transformation, chromosome analysis could provide valuable diagnostic information and identify patients that might benefit from early chemotherapy. Results of this limited study indicate (1) chromosome aberrations are common in leukaemic cats, (2) chromosome changes are not completely random, (3) direct bone marrow technique for chromosome analysis is generally preferable in leukaemic cats and (4) the cat appears to be a good model in which to study chromosomal abnormalities in leukaemia, though more research is needed.
Subject(s)
Cat Diseases/genetics , Chromosome Aberrations/veterinary , Leukemia/veterinary , Animals , Cat Diseases/pathology , Cats , Chromosome Aberrations/genetics , Chromosome Aberrations/pathology , Chromosome Disorders , Leukemia/genetics , Leukemia/pathology , PloidiesABSTRACT
Analysis of skin fibroblast cultures from a deformed stillborn female Alaskan Malamute pup revealed a 3n = 117,XXX (normal, 2n = 78,XX) chromosome count. The triploid pup was delivered by cesarean section 5 days after estimated date of parturition, because the bitch failed to start labor. The bitch had been inseminated with thawed frozen semen deposited into the lumen of the uterus approximately 4 days after ovulation. Gross anatomic abnormalities of the pup included omphalocele, diaphragmatic hernia, persistent right aortic arch, atresia ani, and no right forelimb distal to the scapula. The pup also had arthrogryposis of the left carpus, kyphosis of the thoracic vertebrae, widely separated cranial sutures, open fontanelles, hydrocephalus, and cleft palate. Suspected cause of the triploidy was dispermy of an aged oocyte after intrauterine deposition of the thawed frozen semen. Numeric chromosome abnormalities may be causes of fetal deformity or death that can be detected by fetal karyotype.
Subject(s)
Dogs/genetics , Semen Preservation/veterinary , Animals , Dogs/abnormalities , Female , Fetal Death/veterinary , Freezing , Karyotyping/veterinary , PregnancyABSTRACT
A 6-month-old stunted female Doberman Pinscher was found to have a 77,X0 chromosomal complement. The ovaries were small, consisting primarily of interstitial-type cells and solid epithelial cords. The dam, sire, and a male littermate had normal karyotypes.