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Species | W P RobinsonSummaryAffiliation: University of British Columbia Country: Canada Publications
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Publications
Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicismWendy P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Prenat Diagn 22:1076-85. 2002..To investigate presence of trisomy in amniotic epithelium (uncultured amnion) and mesenchyme (cultured amnion) from mosaic cases to understand the origins of these tissues and their relationship to pregnancy outcome...- Mechanisms leading to uniparental disomy and their clinical consequencesW P Robinson
Department of Medical Genetics, University of British Columbia, B C Research Institute for Children s and Women s Health, Vancouver, Canada
Bioessays 22:452-9. 2000..This can be an important step in cancer development as well as a contributing factor to other late onset diseases. This review summarizes mechanisms by which UPD may arise and their associated clinical consequences... - Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomyB D Kuchinka
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Prenat Diagn 21:36-9. 2001..Molecularly confirmed UPD4 has not been previously reported, and therefore, although the adverse outcome in Case 1 is likely due to the trisomy 4 in the placenta, an imprinting effect associated with UPD4 cannot be excluded... - Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restrictionW P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Am J Hum Genet 60:917-27. 1997..In addition, UPD for some chromosomes may affect prenatal, but not postnatal, development, possibly indicating that imprinting effects for these chromosomes are confined to placental tissues... - Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombinationW P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Hum Mol Genet 7:1011-9. 1998..However, they may also reflect the presence of multiple factors which act to ensure normal segregation, each affected by maternal age in a different way and varying in importance for each chromosome... - An association between sex chromosomal aneuploidy in sperm and an abortus with 45,X of paternal origin: possible transmission of chromosomal abnormalities through ICSIS S Tang
Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada
Hum Reprod 19:147-51. 2004.... - Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15W P Robinson
Department of Medical Genetics, University of British Columbia, and the B C Research Institute for Children s and Women s Health, Vancouver, Canada
Clin Genet 57:349-58. 2000.... - Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainmentW P Robinson
Department of Medical Genetics, University of British Columbia, and B C Research Institute for Children s and Women s Health, Vancouver, Canada
Am J Med Genet 84:34-42. 1999..No phenotypic differences were apparent when cases were subdivided based on either parent or stage of origin of the trisomy... - The origin of abnormalities in recurrent aneuploidy/polyploidyW P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Am J Hum Genet 69:1245-54. 2001..Furthermore, this is true even when a second SA involves the same abnormality. Nonetheless, these data do not exclude some population variability in risk for aneuploidy... - Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)E Rajcan-Separovic
British Columbia s Children s Hospital, Department of Pathology, Cytogenetics, Vancouver, British Columbia, Canada
Am J Med Genet 99:320-4. 2001..This finding raises the possibility that there may be an increased risk for trisomy 15 in some carriers of unbalanced t(Y;15) which, if followed by trisomic zygote rescue, may lead to uniparental disomy (UPD)... - Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injectionR Lam
Department of Obstetrics and Gynecology, University of British Columbia, Vancouver Hospital and Health Sciences Centre, Vancouver, British Columbia, Canada
Fertil Steril 76:1272-5. 2001..The use of umbilical cord blood for cytogenetic analysis substantially improves the ability to determine rates of chromosomal abnormalities in newborns produced via ICSI clinics... - Prenatally detected trisomy 20 mosaicismW P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Prenat Diagn 25:239-44. 2005..Because of the lack of molecular studies on such cases, it is unknown whether the origin of trisomy or presence of uniparental disomy (UPD) could have some influence on outcome... - Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicismP J Yong
MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children's and Women's Health, Vancouver, British Columbia, Canada
J Med Genet 40:175-82. 2003..CONCLUSION: The levels of trisomy in different fetal-placental tissues are significant predictors of some measures of outcome in mosaic trisomy 16 pregnancies... - Skewed X inactivation and recurrent spontaneous abortionW P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Semin Reprod Med 19:175-81. 2001.... - Grandmaternal origin of an isochromosome 18p present in two maternal half-sistersJ Boyle
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Am J Med Genet 101:65-9. 2001..Thus, the isochromosome, although present at fertilization, must have been lost from the majority of embryonic precursor cells. This case raises important genetic counseling issues concerning recurrence risks... - Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnanciesP J Yong
Experimental Medicine Programs, University of British Columbia, Canada
Am J Med Genet 112:123-32. 2002..Although we do not advocate prenatal testing for upd(16), studies on the long-term outcome of upd(16)mat neonates is necessary for counseling purposes... - Evaluating DNA methylation and gene expression variability in the human term placentaL Avila
Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, 950 West 28th Ave, Vancouver, BC, Canada
Placenta 31:1070-7. 2010..Therefore, we investigated the nature of within and between- placenta variation in gene expression and DNA methylation of genes that were chosen for being differentially expressed or methylated by cell type within the placenta... - The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disordersD K Bourque
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Clin Genet 79:169-75. 2011..These results also show the maintenance of imprinting status at these loci in the human placenta, even in the presence of abnormal pathology... - Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriageA F Hirschfeld
Department of Paediatrics, BC Children s Hospital and Child and Family Research Institute, Vancouver, Canada
Hum Reprod 22:440-3. 2007..We hypothesized that genetic variation altering TLR4 function may influence the risk of idiopathic pregnancy loss... - Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsiaD K Bourque
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Placenta 31:197-202. 2010..The goal of the present study was to assess whether abnormal regulation of imprinted genes is associated with intrauterine growth restriction (IUGR) and/or preeclampsia (PET)... - Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5W P Robinson
Department of Medical Genetic, University of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet A 143:1752-9. 2007..While the placental findings of PMD can be caused by an unbalanced dosage of genes in 11p15.5 alone, fetal growth parameters appear to depend on the underlying mechanism and likely also the level and distribution of abnormal cells... - The association of skewed X chromosome inactivation with aneuploidy in humansK Bretherick
Department of Medical Genetics, University of British Columbia, BC Research Institute for Children's and Women's Health, Vancouver, BC, Canada
Cytogenet Genome Res 111:260-5. 2005.... - The dynamics of X-inactivation skewing as women ageC Hatakeyama
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Clin Genet 66:327-32. 2004..An alternative possibility is that there is allele-specific loss of methylation with time that results in the appearance of increased XCI skewing using a methylation-based assay... - Review: A high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcomeR K C Yuen
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Placenta 32:S136-41. 2011..We discuss the factors that may influence the distribution of variation and how, understanding the source of this variation is important for interpreting data used to investigate and predict clinical outcomes... - Pregnancy and postnatal outcome of mosaic isochromosome 20qW P Robinson
Department of Medical Genetics, University of British Columbia, British Colombia, Canada
Prenat Diagn 27:143-5. 2007..Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases... - Recurrent trisomy 21: four cases in three generationsJ L Gair
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Clin Genet 68:430-5. 2005..We hypothesize that a cryptic rearrangement within the highly repetitive region of 21q11.1 is present in this family, disrupting pairing and leading to an increased risk of non-disjunction of chromosome 21 in this family... - The causes and consequences of random and non-random X chromosome inactivation in humansC J Brown
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Clin Genet 58:353-63. 2000..In this review, we discuss recent advances in our understanding of how inactivation works, as well as the causes and clinical implications of deviations from random inactivation... - Phenotype of triploid embryosD E McFadden
University of British Columbia, BC, Canada
J Med Genet 43:609-12. 2006..While there may be subtle effects of imprinting on embryonic development, they are not as obvious as they are in the mouse, consistent with the general trend of fewer imprinted genes in human beings compared with the mouse... - Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnanciesC L Beever
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Am J Hum Genet 72:399-407. 2003..We hypothesize that the association between skewed XCI and trisomic pregnancies is produced by a common mechanism that underlies both and that involves a reduction of the size of the follicular pool... - Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case reportS Ma
Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada
Hum Reprod 18:2298-301. 2003..The molecular and cytogenetic studies indicated a 46,XX male infant without the SRY gene or 46,XX/XY mosaicism. The possible mechanism in this SRY-negative XX male by ICSI is discussed... - Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy lossE Rajcan-Separovic
Department of Pathology and Lab Medicine, University of British Columbia, Vancouver, BC, Canada
Hum Reprod 25:2913-22. 2010..In this study, we investigated the possibility that submicroscopic chromosomal changes, not detectable by conventional cytogenetic analysis, exist in miscarriages with normal karyotypes (46,XY or 46,XX) from couples with idiopathic RPL... - Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control studyM D Stephenson
Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada
Hum Reprod 17:446-51. 2002..The objectives of this study were to determine the frequency and distribution of cytogenetically abnormal miscarriages from couples with recurrent miscarriage and to compare the results with the general population... - Androgenetic/biparental mosaicism causes placental mesenchymal dysplasiaK A Kaiser-Rogers
J Med Genet 43:187-92. 2006..Androgenetic mosaicism for the first time provides an aetiology for PMD, and may be a novel mechanism for BWS and unexplained intrauterine growth restriction... - X-chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injectionW P Robinson
Am J Med Genet A 137:343-5. 2005