scholarly journals Clinical Cytogenetics of the Dog: A Review

Animals ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 947
Author(s):  
Izabela Szczerbal ◽  
Marek Switonski
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Chromosome Complement ◽  
Disorders Of Sex Development ◽  
Digital Pcr ◽  
Chromosome Abnormalities ◽  
Molecular Techniques ◽  
Comparative Genome Hybridization ◽  
Reciprocal Translocations

The dog is an important companion animal and has been recognized as a model in biomedical research. Its karyotype is characterized by a high chromosome number (2n = 78) and by the presence of one-arm autosomes, which are mostly small in size. This makes the dog a difficult subject for cytogenetic studies. However, there are some chromosome abnormalities that can be easily identified, such as sex chromosome aneuploidies, XX/XY leukocyte chimerism, and centric fusions (Robertsonian translocations). Fluorescence in situ hybridization (FISH) with the use of whole-chromosome painting or locus-specific probes has improved our ability to identify and characterize chromosomal abnormalities, including reciprocal translocations. The evaluation of sex chromosome complement is an important diagnostic step in dogs with disorders of sex development (DSD). In such cases, FISH can detect the copy number variants (CNVs) associated with the DSD phenotype. Since cancers are frequently diagnosed in dogs, cytogenetic evaluation of tumors has also been undertaken and specific chromosome mutations for some cancers have been reported. However, the study of meiotic, gamete, and embryo chromosomes is not very advanced. Knowledge of canine genome organization and new molecular tools, such as aCGH (array comparative genome hybridization), SNP (single nucleotide polymorphism) microarray, and ddPCR (droplet digital PCR) allow the identification of chromosomal rearrangements. It is anticipated that the comprehensive use of chromosome banding, FISH, and molecular techniques will substantially improve the diagnosis of chromosome abnormalities in dogs.

scholarly journals Chromosomal abnormalities in recurrent spontaneous abortions: A retrospective study

2020 ◽  
Author(s):  
Inusha Panigrahi ◽  
Mohd. Shariq ◽  
Ravi Thakur ◽  
Subhas Saha ◽  
Gurjit Kaur
Keyword(s):  
Chromosomal Rearrangement ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
First Trimester ◽  
Median Number ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Reciprocal Translocations ◽  
Recurrent Spontaneous Abortions ◽  
Complex Chromosomal Rearrangement

Purpose: Evaluation of recurrent spontaneous abortions (RSA) can be challenging for a Obstetrician. In case of early first trimester abortions, chromosomal abnormalities can be identified as an important cause. We analysed the RSA cases followed up and diagnosed in the Genetic Clinic or Genetic Lab of 2 hospitals in the region. Methods: Those couples with 3 or more spontaneous abortions were included in the analysis. Karyotyping was one using standard protocol with G-banding and reporting as per ISCN guidelines. Results: Of 97 RSA couples, 20 showed chromosomal abnormalities, and 15 of these had balanced chromosomal rearrangements. The age ranged from 22 years to 37 years, and the median number of abortions was 4. Complex chromosomal rearrangement was seen in 2 couples, in one partner. The spectrum of chromosomal anomalies in couples with RSA is discussed here. Conclusions: Frequency of chromosomal abnormalities in RSA was higher in present study compared to previous studies. Reciprocal translocations were commonest abnormality.

scholarly journals Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

2019 ◽  
Vol 7 (2) ◽  
pp. 16 ◽  
Author(s):  
Hongyan Chai ◽  
Autumn DiAdamo ◽  
Brittany Grommisch ◽  
Jennifer Boyle ◽  
Katherine Amato ◽  
...  
Keyword(s):  
Cellular Proliferation ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Case Series ◽  
Diagnostic Procedures ◽  
Comparative Genomic ◽  
Mosaic Pattern ◽  
Diagnostic Efficacy

Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements, and pathogenic copy number variants (pCNV), we performed a retrospective analysis on a case series initially analyzed by aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then followed by array comparative genomic hybridization (aCGH). Of the 386 cases retrieved from the past decade, common aneuploidies were detected in 137 cases (35.5%), other chromosomal structural rearrangements were detected in four cases (1%), and pCNV were detected in five cases (1.3%). The relative frequencies for common aneuploidies suggested an under detection of sex chromosome aneuploidies. Approximately 9.5% of cases with common aneuploidies showed a mosaic pattern. Inconsistent results between FISH and karyotyping were noted in cases with pseudo-mosaicism introduced by culture artifact or variable cellular proliferation from cells with mosaic karyotypic complements under in vitro cell culture. Based on findings from this case series, cell-based FISH and karyotyping should be performed to detect common aneuploidies, structural chromosomal abnormalities, and mosaic pattern. DNA-based aCGH and reflex FISH should be performed to detect and confirm genomic imbalances and pCNV. Practice points to ensure the diagnostic accuracy and efficacy were summarized.

scholarly journals Integrated FISH, Karyotyping and aCGH analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

2018 ◽  
Author(s):  
Hongyan Chai ◽  
Autumn DiAdamo ◽  
Brittany Grommisch ◽  
Jennifer Boyle ◽  
Katherine Amato ◽  
...  
Keyword(s):  
Cellular Proliferation ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Case Series ◽  
Diagnostic Procedures ◽  
Comparative Genomic ◽  
Mosaic Pattern ◽  
Diagnostic Efficacy

Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements and pathogenic copy number variants (pCNV), we performed a retrospective analysis on a case series initially analyzed by aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then followed by array comparative genomic hybridization (aCGH). Of the 386 cases retrieved from the past decade, common aneuploidies were detected in 137 cases (35.5%), other chromosomal structural rearrangements were detected in four cases (1%), and pCNV were detected in five cases (1.3%). The relative frequencies for common aneuploidies suggested a under detection of sex chromosome aneuploidies. Approximately 9.5% of cases with common aneuploidies showed a mosaic pattern. Inconsistent results between FISH and karyotyping were noted in cases with pseudo-mosaicism introduced by culture artifact or variable cellular proliferation from cells with mosaic karyotypic complements under in vitro cell culture. Based on findings from this case series, cell-based FISH and karyotyping should be performed to detect common aneuploidies, structural chromosomal abnormalities, and mosaic pattern. DNA-based aCGH and reflex FISH should be performed to detect and confirm genomic imbalances and pCNV. Practice points to ensure the diagnostic accuracy and efficacy were summarized.

The EEG and Sex Chromosome Abnormalities

1971 ◽  
Vol 119 (549) ◽  
pp. 185-190 ◽  
Author(s):  
G. W. Fenton ◽  
T. G. Tennent ◽  
K. A. Comish ◽  
N. Rattray
Keyword(s):  
Comparative Study ◽  
Sex Chromosome ◽  
Single Case ◽  
Case Reports ◽  
Chromosome Complement ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities ◽  
Xyy Syndrome ◽  
Hospital Patients ◽  
Special Hospital

A number of recent reports have drawn attention to the abnormal EEG findings obtained in subjects with Klinefelter's Syndrome (Dumermuth, 1961; Hambert and S: son Frey, 1964; Hambert, 1964; Nielsen, 1969; Nielsen and Pedersen, 1969; Pasqualini et al., 1957; Prader et al., 1958; Zuppinger et al., 1967). An increased prevalence of epilepsy within this group has also been noted (Hambert, 1964). Much less is known about the electroencephalogram in the XYY syndrome, the available data being limited to single case reports or reports involving only a few subjects (Borgaonkar et al., 1968; Bartlett et al., 1968; Court-Brown et al., 1968; Cowie and Khan, 1968; Forssman, 1967; Forssman and Hambert, 1966; Kessler and Moos, 1970; Leff and Scott, 1968; Mintzer et al., 1968; Nielsen and Pedersen, 1969; Nielsen and Tsuboi, 1969; Nielsen et al., 1966; Pergament et al., 1968; Persson, 1967; Weiner et al., 1968; Welch et al., 1967). This paper describes the initial findings of a comparative study of Special Hospital patients with sex chromosome abnormalities and a group of matched controls of normal chromosome complement from the same institution.

THE CHROMOSOME COMPLEMENT OF RABBIT BLASTOCYSTS IN RELATION TO THE TIME OF MATING AND OVULATION

1969 ◽  
Vol 11 (2) ◽  
pp. 287-293 ◽  
Author(s):  
Evelyn L. Shaver ◽  
D. H. Carr
Keyword(s):  
Sex Ratio ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Chromosome Abnormalities ◽  
Chromosome Constitution

Six-day blastocysts were recovered from rabbits mated at various intervals from 0 to 10 hours after an ovulation-inducing injection of chronic gonadotrophin. Ten of eighty or 13% of the blastocysts from animals mated between 6 and 9 hours after injection were triploid in chromosome constitution. When karyotyped, seven of the triploids had an XXY and three an XXX sex chromosome complex. The incidence of chromosome abnormalities at delay intervals from 0 to 4 hours was 5%, approximately. No triploids were found at these times. The sex chromosome complex of 6-day blastocysts was XY in 54% and XX in 46% of the blastocysts. No difference in the sex ratio was noted with delayed mating.

The experience of holding the cycles of assisted reproductive technology with defrost, a biopsy, genetic study and refreezing of embryos in patients with multiple unsuccessful implantations

2016 ◽  
pp. 166-170
Author(s):  
Y.V. Masliy ◽  
◽  
I.O. Sudoma ◽  
P.S. Mazur ◽  
D.A. Mykytenko ◽  
...  
Keyword(s):  
Chromosomal Rearrangements ◽  
Genetic Diagnosis ◽  
Morphological Characteristics ◽  
Implantation Rate ◽  
Ovarian Response ◽  
Reproductive Technologies ◽  
Comparative Genome Hybridization ◽  
Comparative Genome ◽  
Vitro Fertilization

The objective: to study the possibility of using frozen blastocysts for biopsy and genetic testing and performance measurement transfer euploeded 5–7-day-old embryos after thawing, biopsies, refreezing and thawing in patients with unsuccessful implantation. Patients and methods. The object of the study was the group of patients with repeated failure of implantation (4) in programs of auxiliary reproductive technologies (ART), subject to transfer to the uterus in total (i.e. in all the programs) for at least 6 good quality embryos based on morphological characteristics). All women had sufficient ovarian reserve. The patient was treated for infertility within the ART programs of the clinic of reproductive medicine "Nadiya" in the period from 2006 to 2016. The sample included couples who were not carriers of chromosomal rearrangements, without anomalies of the uterus (congenital and acquired: a doubling of the uterus, one-horned uterus, intrauterine membrane, synechia, submucous myoma of the uterus). All women had a positive ovarian response to controlled stimulation with gonadotropins (at least 7 oocytes) and a sufficient number of cryopreserved embryos. The first group (G1) included 64 women who trophectodermal a biopsy was performed on fresh blastocysts (in a loop controlled ovarian hyperstimulation). The second group (G2) were included 31 women who underwent thawing previously cryopreserved blastocysts trophectodermal re-biopsy and vitrification of blastocysts. Results. It was found that the performance of transfers euploid embryos that were vitrified, bioptrone and revitriphted, a little lower than those that were bioptrone fresh and vitrified only once. At the same time computationa genetic diagnosis previously vitrified blastocysts using comparative genome hybridization in patients with recurrent failed implantation allows to obtain a reasonable pregnancy rate (58%), implantation rate (33.3 %) and the birth of living children (45.1 %). Conclusion. Reprising biopropane embryos does not cause significant destructive impact and allows you to achieve pregnancy and birth of the alive child. Key words: in vitro fertilization, reusable unsuccessful implantation, a method of comparative genome hybridization, refreezing.

The epidemiology of sex chromosome abnormalities

2020 ◽  
Vol 184 (2) ◽  
pp. 202-215
Author(s):  
Agnethe Berglund ◽  
Kirstine Stochholm ◽  
Claus Højbjerg Gravholt
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities

scholarly journals Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 478
Author(s):  
Yunli Lai ◽  
Xiaofan Zhu ◽  
Sheng He ◽  
Zirui Dong ◽  
Yanqing Tang ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Read Depth ◽  
Trisomy 13 ◽  
Prognostic Information ◽  
Aneuploidy Screening ◽  
Predictive Values ◽  
Risk Result

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

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