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Pires Renato - - 2014
BackgroundThe rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants ...
Mohamed Sarar - - 2014
Abstract Background: Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS. Methods: This was a retrospective evaluation of the clinical and laboratory records of patients with TS. Results: Sixty-five ...
Knauer-Fischer S S Division of Paediatric Endocrinology, Children's Hospital, University of - - 2014
Background: Mosaicism with cytogenetically visible Y chromosome is found in 5-6% of Turner Syndrome (TS) patients. Additionally, occult Y-chromosome derived material is increasingly found in patients with monosomy X when using more sensitive molecular techniques. These TS patients are at risk of developing gonadoblastomas when the Y genes presumed to ...
Hill Joshua A JA Division of Allergy and Infectious Diseases, University of Washington, Seattle, WA; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, WA. Electronic address: - - 2014
We identified 37 hematopoietic cell transplantation recipients with human herpesvirus 6 (HHV-6) central nervous system dysfunction and tested donors/recipients for chromosomally integrated (ci)HHV-6. One patient had ciHHV-6A with possible HHV-6A reactivation and encephalitis. There was no ciHHV-6 enrichment in this group, but larger studies are needed to determine if patients ...
Shimada Shino S Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, - - 2014
Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features. In cooperation with academic societies, we analyzed the genomic copy number aberrations using chromosomal microarray testing. Finally, the genotype-phenotype correlation among ...
Zahir Muhammad Nauman - - 2014
Cytogenetic abnormalities have long been recognized as the genetic basis of the occurrence of various malignancies. Specific cytogenetic abnormalities have shown to occur recurrently in particular subtypes of leukaemias and lymphomas. t(1;14) is an infrequently occurring recurrent chromosomal translocation that has been described in literature to be associated with haematological ...
Gupta Raghbir Chand RC Department of Botany, Punjabi University, Patiala 147002, - - 2014
The present paper deals with meiotic studies in 15 species belonging to 6 genera of the tribe Cichorieae from various localities of Western Himalayas. The chromosome number has been reported for the first time in Hieracium crocatum (2n = 10) and Lactuca lessertiana (2n = 2x = 16). Further, intraspecific ...
Pickard Amelia - - 2013
Myotonic dystrophy type 1 (MD1) is the commonest muscular dystrophy found in adults; however, it may present in the neonatal period with hypotonia, talipes, poor feeding, and respiratory failure. Inheritance is autosomal dominant with a defect in the DMPK gene found on the long arm of chromosome 19 with variable ...
Esquilin Jose M - - 2012
X chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here we report a family with Hemophilia B with female expression through inherited X skewing that appears to be independent of either ...
Bojesen A - - 2011
The phenotypic variation of Klinefelter syndrome (KS) is wide and may by caused by various genetic and epigenetic effects. Skewed inactivation of the supra-numerical X chromosome and polymorphism in the androgen receptor (AR) have been suggested as plausible causes. We wanted to describe X-chromosome inactivation patterns and the AR polymorphism ...
SiƟman Turgay - - 2011
Humans are exposed to stannous chloride (SnCl(2) ), known as tin chloride, present in packaged food, soft drinks, biocides, dentifrices, etc. Health effects in children exposed to tin and tin compounds have not been investigated yet. Therefore, we evaluated the possible teratogenic effects and genotoxic of SnCl(2) in zebrafish (Danio ...
Akbas E - - 2011
We report on a twenty-two months old male patient with hypotonia, mental and motor retardation and trigonocephaly. Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46,XY, der(9) monosomy 9pter-->p22, trisomy 10q26--> qter karyotype. This unbalanced translocation resulted from the father's t(9,10) (p22;p26) karyotype. Deletions ...
Korzeniewski Nina - - 2011
High-risk HPV E6 and E7 oncoproteins cooperate to subvert critical host cell cycle checkpoint control mechanisms in order to promote viral genome replication. This results not only in aberrant proliferation but also in host cellular changes that can promote genomic instability. The HPV-16 E7 oncoprotein was found to induce centrosome ...
Liu Shan - - 2011
Although the redistributions of mitochondria and cortical granules and global DNA methylation status were not altered in a dose-response manner, high dosages of gonadotropin induced spindle and chromosomal abnormalities. The present study highlights the importance of judicious use of gonadotropins and can be applied to clinical stimulation protocols to reduce ...
Geraedts Joep Pm - - 2010
EVALUATION OF: Mir P, Rodrigo L, Mateu E et al. Improving FISH diagnosis for preimplantation genetic aneuploidy screening. Hum. Reprod. 25(7), 1812-1817 (2010). Mir et al. have evaluated the impact of additional hybridization rounds on FISH accuracy in preimplantation genetic screening (PGS) of aneuploidy. In a retrospective analysis of 1000 ...
Trapphoff Tom - - 2010
Cryopreservation of follicles for culture and oocyte growth and maturation in vitro provides an option to increase the number of fertilizable oocytes and restore fertility in cases where transplantation of ovarian tissue poses a risk for malignant cell contamination. Vitrification for cryopreservation is fast and avoids ice crystal formation. However, ...
Hunt Patricia - - 2010
Chromosome abnormalities in humans are strikingly associated with increasing maternal age. Studies in mice implicate loss of chromosome cohesion as an important cause of age-related meiotic errors in the oocyte.
Vieira Rodolpho C - - 2011
To evaluate the meiotic spindle and chromosomal distribution of in vitro-matured oocytes from infertile nonobese women with PCOS and male or tubal causes of infertility (controls), and to compare in vitro maturation (IVM) rates between groups. Seventy four patients (26 with PCOS and 48 controls) undergoing stimulated cycles of oocyte ...
Baumann Claudia - - 2010
The α-thalassemia/mental retardation X-linked protein (ATRX) is a chromatin-remodeling factor known to regulate DNA methylation at repetitive sequences of the human genome. We have previously demonstrated that ATRX binds to pericentric heterochromatin domains in mouse oocytes at the metaphase II stage where it is involved in mediating chromosome alignment at ...
Jin Fang F Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of - - 2010
Chromosome missegregation in germ cells is an important cause of unexplained infertility, miscarriages, and congenital birth defects in humans. However, the molecular defects that lead to production of aneuploid gametes are largely unknown. Cdc20, the activating subunit of the anaphase-promoting complex/cyclosome (APC/C), initiates sister-chromatid separation by ordering the destruction of ...
Kedia-Mokashi Neelam - - 2010
Tamoxifen is a synthetic non-steroidal Selective Estrogen Receptor Modulator used in the treatment of breast cancer and in treatment of male fertility. Earlier studies from our laboratory had demonstrated an increase in post-implantation embryo loss following tamoxifen treatment to adult male rats at a dose of 0.4mg/kg/day for 60 days. ...
Luciano Alberto M - - 2010
Although the mRNA that encodes progesterone receptor membrane component 1 (PGRMC1) is present in mammalian oocytes, nothing is known about either PGRMC1's expression pattern or function in oocytes during maturation, fertilization, and subsequent embryonic development. As PGRMC1 associates with the mitotic spindle in somatic cells, we hypothesized that PGRMC1 is ...
Pendina A A - - 2011
We performed a stage-by-stage study of DNA methylation patterns in metaphase chromosomes from blastomeres of triploid and abnormal diploid human embryos. QFH-banded homologous parental chromosomes differ in their DNA methylation patterns at the metaphase of the 1st cleavage division. Chromosomes of both parental genomes are gradually demethylated at subsequent cleavages, ...
Tauwinklova Gabriela - - 2010
to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed ...
Córdova B - - 2010
This study examines the effects of adding insulin-transferrin-selenium (ITS) and/or L-ascorbic acid (ASC) to a conventional medium for maturing prepubertal calf oocytes on chromosome organization, cortical granule (CG) distribution, and embryo development to the blastocyst stage. Cumulus-oocyte complexes (COCs) were matured in medium TCM 199 containing PVA and EGF (control), ...
Eaton Jennifer L - - 2011
To compare the prevalence of blastocyst development and euploidy in XX versus XY embryos. Retrospective cohort study. Boston IVF, a large university-affiliated reproductive medicine practice. All patients who underwent their first preimplantation genetic screening cycle between January 1, 2006, and December 31, 2007. In vitro fertilization and preimplantation genetic screening. ...
Johnson D S - - 2010
Aneuploidy has been well-documented in blastocyst embryos, but prior studies have been limited in scale and/or lack mechanistic data. We previously reported preclinical validation of microarray 24-chromosome preimplantation genetic screening in a 24-h protocol. The method diagnoses chromosome copy number, structural chromosome aberrations, parental source of aneuploidy and distinguishes certain ...
Gianaroli L - - 2010
To estimate the incidence of aneuploidy in relation to patients' characteristics, the type of hormonal stimulation and their response to induction of multiple follicular growth, 4163 first polar bodies (PB1s) were analyzed. Five hundred and forty four infertile couples underwent 706 assisted conception cycles (640 with poor prognosis indications and ...
Ferreira A R - - 2010
During embryogenesis, one of the two X chromosomes is inactivated in embryos. The production of embryos in vitro may affect epigenetic mechanisms that could alter the expression of genes related to embryo development and X chromosome inactivation (XCI). The aim of this study was to understand XCI during in vitro, ...
Wells Dagan - - 2010
Chromosome abnormalities are common among human oocytes and are usually lethal to any embryos they produce. It therefore seems logical that a reliable technique for distinguishing between normal and aneuploid embryos would be a useful tool for physicians and embryologists, assisting the choice of which embryo(s) to prioritize for uterine ...
Kyrou Dimitra - - 2011
To investigate whether the incidence of chromosomally abnormal blastomeres is related to the type of pituitary suppression used in ovarian stimulation. Retrospective study. Tertiary referral center. The study involved 694 consecutive cycles; 320 belonged to agonist group and 374 to antagonist group, of patients' ≤37 years of age who underwent ...
Watanabe Hiroyuki - - 2010
The aim of the present study was to investigate the effect of mouse oocyte volume on the efficiency of chromosomal analysis in livestock spermatozoa. Oocytes were injected with bull, ram, boar and dog sperm heads, and then fused with enucleated mouse oocytes. The increment of oocyte volume increased the rates ...
Santos Margarida Avo - - 2010
Post-zygotic chromosome segregation errors are very common in human embryos after in vitro fertilization, resulting in mosaic embryos. However, the significance of mosaicism for the developmental potential of early embryos is unknown. We assessed chromosomal constitution and development of embryos from compaction to the peri-implantation stage. From 112 cryopreserved Day ...
Caamaño J N - - 2010
The meiotic spindle structure plays a key role in normal chromosome alignment and segregation during meiosis. Polarized light microscopy (PLM) allows non-invasive evaluation of the meiotic spindle of metaphase oocytes from different animal species. The purpose of this article is to review the use of PLM in animal reproduction, mainly ...
Kwon Dae Jin - - 2010
This study was conducted to evaluate the microtubule distribution following control of nuclear remodeling by treatment of bovine somatic cell nuclear transfer (SCNT) embryos with caffeine or roscovitine. Bovine somatic cells were fused to enucleated oocytes treated with either 5 mM caffeine or 150 microM roscovitine to control the type ...
Tachibana Masahito M Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, Oregon, - - 2010
In this article, we describe detailed protocols for the isolation and transfer of spindle-chromosomal complexes between mature, metaphase II-arrested oocytes. In brief, the spindle-chromosomal complex is visualized using a polarized microscope and extracted into a membrane-enclosed karyoplast. Chromosomes are then reintroduced into an enucleated recipient egg (cytoplast), derived from another ...
Alfarawati Samer - - 2011
To assess correlation between blastocyst morphology and chromosomal status. Observational research study. An IVF clinic and a specialist preimplanation genetic diagnosis (PGD) laboratory. Ninety-three couples undergoing IVF treatment in combination with chromosome screening of embryos. Five hundred blastocysts underwent trophectoderm biopsy and comprehensive chromosome screening using comparative genomic hybridization (CGH). ...
Gardner David K - - 2010
Male and female preimplantation mammalian embryos differ not only in their chromosomal complement, but in their proteome and subsequent metabolome. This phenomenon is due to a finite period during preimplantation development when both X chromosomes are active, between embryonic genome activation and X chromosome inactivation, around the blastocyst stage. Consequently, ...
Yang C Y - - 2010
The objective of this study was to explore the feasibility of inter-subspecies somatic cell nuclear transfer (SCNT) of river buffalo (50 chromosomes) somatic cell nuclei into swamp buffalo (48 chromosomes) oocyte cytoplasm. The enucleated swamp buffalo oocytes were fused with four different types of river buffalo cells: freshly thawed ear ...
Mir P - - 2010
In our routine programme of preimplantation genetic aneuploidy screening (PGS) by fluorescence in situ hybridization (FISH), nine chromosomes (13, 15, 16, 17, 18, 21, 22, X and Y) are analysed in two consecutive hybridization rounds. We also perform additional hybridization rounds for these chromosomes, using probes that bind to different ...
Treff Nathan R - - 2010
Many studies estimate that chromosomal mosaicism within the cleavage-stage human embryo is high. However, comparison of two unique methods of aneuploidy screening of blastomeres within the same embryo has not been conducted and may indicate whether mosaicism has been overestimated due to technical inconsistency rather than the biological phenomena. The ...
Yang Kuo-Tai - - 2010
We previously isolated Aurora-C/Aie1 in a screen for kinases expressed in mouse sperm and eggs. Here, we show the localization of endogenous Aurora-C and examine its roles during female mouse meiosis. Aurora-C was detected at the centromeres and along the chromosome arms in prometaphase I-metaphase I and was concentrated at ...
Northrop L E - - 2010
Although selection of chromosomally normal embryos has the potential to improve outcomes for patients undergoing IVF, the clinical impact of aneuploidy screening by fluorescence in situ hybridization (FISH) has been controversial. There are many putative explanations including sampling error due to mosaicism, negative impact of biopsy, a lack of comprehensive ...
Zhang Xiao Yun - - 2010
The aim of this retrospective study was to compare the incidence of chromosomal abnormality in embryos from in-vitro maturation (IVM) and IVF cycles. The copy numbers of chromosomes 13, 15, 16, 18, 21, 22, X and Y were assessed with fluorescence in-situ hybridization (FISH) in single blastomeres biopsied from cleavage ...
Sisunandar - - 2010
The present study aimed at exploring the fidelity of coconut (Cocos nucifera L.) plants recovered from cryopreservation. Zygotic embryos from various different cultivars were cryopreserved following four successive steps, namely: rapid dehydration, rapid freezing, rapid thawing and in vitro recovery followed by acclimatization. At the end of the acclimatization period, ...
Forstmeier Wolfgang - - 2010
Hatching failure is a surprisingly common phenomenon given that natural selection constantly works against it. In birds, an average of about 10 per cent of eggs across species fail to hatch, often owing to the death of embryos. While embryo mortality owing to inbreeding is both well-documented and evolutionarily plausible, ...
Romaguera R - - 2010
The aim of this study was to assess the following parameters in prepubertal goat oocytes of different follicle diameter (> or =3 mm, <3 mm, control): oocyte diameter, early (Annexin-V) and late (TUNEL) apoptosis, embryo development and chromosomal ploidy of these blastocysts using Fluorescence In Situ Hybridization (FISH). Before in ...
Levi Mattan - - 2010
The process of resumption of the first meiotic division (RMI) in mammalian oocytes includes germinal vesicle breakdown (GVBD), spindle formation during first metaphase (MI), segregation of homologous chromosomes, extrusion of the first polar body (PBI) and an arrest at metaphase of the second meiotic division (MII). Previous studies suggest a ...
Kuliev Anver - - 2010
Due to the limitations of preimplantation genetic diagnosis (PGD) for chromosomal rearrangements by interphase fluorescent in-situ hybridization (FISH) analysis, a method for obtaining chromosomes from single blastomeres was introduced by their fusion with enucleated or intact mouse zygotes, followed by FISH analysis of the resulting heterokaryons. Although this allowed a ...
Gosden Roger - - 2010
Oocytes play a pivotal role in the cycle of human life. As we discuss here, after emerging from germline stem cells in the fetus, they grow in a follicular niche in which development is harmonized for timely ovulation and hormone secretion after puberty. Most human oocytes have poor developmental competence ...
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